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Disorder of neuronal migration and differentiation Genetic defect of hair shaft Incomplete ossification of metacarpal bone Congenital abnormal shape of basisphenoid bone Uncombable hair syndrome Congenital anomaly of cervical vertebra Cervical spina bifida without hydrocephalus - open Congenital myopathy with fiber type disproportion Congenital failure of eye elevation Bifid epiglottis Transitional vertebra Iniencephaly - open Spinal cord hypoplasia Progressive recessive dystrophic epidermolysis bullosa Abnormal coronary artery course Congenital anomaly of premaxilla Congenital anomaly of tympanic anulus Occult spinal dysraphism sequence Congenital abnormality of uterus in pregnancy, childbirth and the puerperium Eisenmenger's defect Lack of ossification of forepaw phalanx Congenital arteriovenous malformation of the gastrointestinal tract Congenital abnormality of iris and ciliary body Giant right atrium Epidermolysis bullosa simplex, Ogna type Congenital abnormality of oral cavity Dentin dysplasia, type I Anomaly of chromosome pair 10 Eisenmenger's complex Congenital anomaly of the hematopoietic system Fissured spine with hydrocephalus Deletion of short arm of chromosome 18 Incomplete ossification of alisphenoid bone Complete trisomy 21 syndrome Overgrowth of whole upper limb Transposition of aorta Rieger eye malformation sequence Lack of ossification of supraoccipital bone Congenital anomaly of middle ear Finnish congenital nephrotic syndrome Dominant congenital ichthyosiform erythroderma Congenital nephritis Meromicrosomia Mutilating keratoderma Congenital chromosomal disease Congenital duodenal obstruction due to annular pancreas Swan's syndrome II Trisomy 18 - mitotic nondisjunction mosaicism Congenital anomaly of trunk Congenital anomaly of aortic valve Distal muscular dystrophy Accessory adrenal cortex Cutaneous syndrome with ichthyosis Pretibial epidermolysis bullosa Anomalous termination of right pulmonary vein Chromosomal alterations of group C and X Congenital absence of forepaw phalanx Duane's syndrome, type 1 Anomaly of chromosome pair 19 Failure of soft tissue differentiation of lower limb Lack of ossification of femur 19q partial trisomy syndrome Congenital abnormal shape of presphenoid bone Congenital displaced kidney Ectopic gastric mucosa - multiple sites Hypoplasia of nipple Male pseudohermaphroditism Cerebro-costo-mandibular syndrome Congenital abnormality of relationship of cardiac component Epispadias, female Megalocornea Supraorbital facial cleft - Tessier cleft 11 Familial dyskeratotic comedones Spina bifida with hydrocephalus - closed Atresia of lower vagina Brachygnathism Anomalous muscle bands of left ventricle Triploidy, diploidy, mixoploidy syndrome Congenital branched rib Generalized junctional epidermolysis bullosa 10p partial monosomy syndrome Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication to right atrium Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting anomalously Congenital emphysema Distal arthrogryposis syndrome Bilateral muscular infundibula Incomplete ossification of supraoccipital bone Deep vein hypoplasia Congenital anomaly of parathyroid glands Incomplete ossification of fibula Camptodactyly Emery-Dreifuss muscular dystrophy Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital anomaly of inner ear Multiple neurofibromas in neurofibromatosis Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex Congenital subluxation of carpus Autosomal dominant lamellar ichthyosis Myelocystocele Total colonic aganglionosis Congenital anomaly of interparietal bone Congenital anomaly of abdomen Congenital anomaly of anterior chamber of eye Complete perimaxillary faciosynostosis Midline cervical cleft Amyoplasia congenita disruptive sequence Congenital cystic kidney disease Left ventricular outflow tract abnormality Eccentric opening of tricuspid pulmonary valve Congenital anomaly of tibia Enamel pearls Constriction ring of upper limb with acrosyndactyly and amputation Persistent vertical vein Synophrys Persistent tunica vasculosa lentis Absent right sided atrioventricular connection Dentate dysplasia Congenital cerebral meningocele Congenital anomaly of tongue 4q partial monosomy syndrome Congenital anomaly of aortic arch Congenital anomaly of spine Congenital anomaly of respiratory system Craniometaphyseal dysplasia - severe type Congenital anomaly of nervous system of head/neck Optic disc structural anomaly Cryptophthalmos Preauricular sinus, pit or fistula Spinal cord dysplasia Ectopic oral gastrointestinal cyst Hypospadias, balanic Congenital spondylolisthesis Criss-cross heart with leftward rotation Lack of ossification of auditory ossicles Congenital cyst of mediastinum Defect of vertebral segmentation Neurofibromatosis, type 1 Imperforate esophagus Laminar heterotopia Paroophoron Spina bifida without hydrocephalus - open Incomplete ossification of basisphenoid bone Congenital depression in skull Congenital claw foot Cervical spina bifida with hydrocephalus Neural tube defect Epidermolysis bullosa simplex with neuromuscular disease Lack of ossification of zygomatic bone Male with structurally abnormal sex chromosome Congenital vertical mandibular hypoplasia Linear porokeratosis Congenital anomaly of optic nerve Pili torti-deafness syndrome Abnormal lung lobation Partial trisomy syndromes Brachypellic pelvis Hypoplasia of right heart Radioulnar dysostosis Sacral agenesis Congenital posterior polar cataract Drash syndrome Knuckle pads, deafness AND leukonychia syndrome Common atrioventricular valve in functionally univentricular heart 15q partial monosomy syndrome 8p partial monosomy syndrome Western type of congenital muscular dystrophy Pit of optic disc Dumbbell ossification of centrum of caudal vertebra Infantile uterus Branchial cleft, cyst or fistula; preauricular sinus Autosomal recessive keratitis-ichthyosis-deafness syndrome Howel-Evans' syndrome Familial arthrogryposis-cholestatic hepatorenal syndrome Congenital anomaly of ear with impairment of hearing Single vessel of umbilical cord Primary vesicoureteric reflux Deletion of long arm of chromosome 13 Erythrokeratoderma progressiva of Gottron Anomaly of chromosome pair 7 Acephalogaster Glycogenosis with glucoaminophosphaturia Congenital anomaly of lower respiratory system Hypogonadism with prune belly syndrome Congenital overgrowth of proximal lower limb Tricuspid annulus hypoplasia Cardiac septal defects Ring chromosome 20 syndrome Middle ear anomaly, excluding ossicles Congenital thickening of radius Upper moiety ureter of duplex kidney Osteopetrosis with renal tubular acidosis Deventer's pelvis Talipes planovalgus Incomplete ossification of interparietal bone 8q partial trisomy syndrome Complete trisomy 8 syndrome Duplication of the whole foot Longitudinal deficiency of ulna Congenital clubbed paw Distal muscular dystrophy with adult onset Vestigial gastrointestinal remnant Congenital macular changes Congenital hypertrichosis lanuginosa Congenital syphilitic hepatomegaly Deletion with complex rearrangement Congenital keratoconus Incomplete ossification of vomer Ranula, congenital Trisomy 8 Atresia of pupil Vertical orbital dystopia Ecchordosis physaliphora Congenital anomaly of spermatic cord Paraspadias Seckel syndrome Right atrial appendage - left - juxtaposition 11q partial trisomy syndrome Pentalogy of Fallot Hypoplasia of eyelid Xeroderma pigmentosum, variant form Common arterial trunk with pulmonary origin from truncal valve sinus Congenital urethral valvular stricture Holorachischisis Congenital anomaly of finger Duplication of radius Abnormal liver lobulation Intermediate X-linked muscular dystrophy Transverse arrest carpal level Sacral dysgenesis Autosomal deletion - mosaicism Right ventricle outflow chamber Ichthyosis hystrix of Curth-Macklin Encephalo-ophthalmic dysplasia Lack of ossification of radius Anomalies of hypothalamus Congenital anomaly of lower trunk Congenital corneal opacity without visual deficit Trisomy 13, meiotic nondisjunction Longitudinal deficiency of radius Congenital anomaly of rectum Congenital ankyloblepharon Structural anomaly of the cochlea and vestibular labyrinth Xeroderma pigmentosum, group F Right sided atrium connecting to right ventricle Uterine atresia Congenital floating liver Congenital female urogenital anomaly Exstrophy of cloaca sequence Congenital anomaly of salivary gland Complete trisomy 20 syndrome Ash leaf spot, tuberous sclerosis Schizencephaly 4p partial trisomy syndrome Paramedian facial cleft - Tessier cleft 2 Lumpy scalp syndrome Persistent tuberculum impar Cystic testicular dysplasia Congenital anomaly of coronary artery Congenital strabismus Generalized recessive dystrophic epidermolysis bullosa mitis Congenital anomaly of upper limb Congenital anomaly of bile ducts Congenital pigmentary skin anomalies Multiple congenital anomalies Foramen ovale valvar aneurysm Humeroradial synostosis Islet cell hyperplasia Persistent aortic arch convolutions Incomplete ossification of centrum of sacral vertebra Imperforate left ventriculoarterial valve Duane syndrome with vertical deviation Autosomal dominant muscular dystrophy with limb girdle distribution Hypoplasia of iris Distal muscular dystrophy with juvenile onset Palmar pitting due to Darier's disease Severe ichthyoses Congenital abnormality of right atrium 6q partial trisomy syndrome Mosaicism 45, X; 46, XX Tetrasomy 12p Amelogenesis imperfecta, hypoplastic type Hepatic vein to left atrium and right atrium Congenital abnormality of atria and atrial septum Fukuyama congenital muscular dystrophy Congenital anomaly of humerus Dumbbell-shaped cartilaginous centrum of lumbar vertebra Congenital anomaly of hair Congenital undergrowth of foot Congenital trigger thumb Atresia of urethra Pseudotrisomy 18 Midline deviation of dental arch Congenital anomaly of epididymis Defect of skull ossification Congenital nonprogressive myopathy with Moebius and Robin sequences Congenital anomaly of vulva Anomaly of chromosome pair 1 Congenital laryngeal adductor palsy Craniofacial microsomia Anomaly of chromosome pair 4 Thyroglossal duct cyst Congenital hypoplasia of presphenoid bone Longitudinal deficiency of phalanges of hand Agyria Dysplasia of lung Congenital anomaly of small intestine Congenital anomaly of the urinary tract proper Shwachman syndrome Solitary pulmonary trunk with aortic atresia Pericarditis secondary to Mulibrey nanism Congenital anomaly of lip Anomaly of chromosome pair 18 Distal aortopulmonary window with minimal superior rim 9q partial monosomy syndrome Anomaly of chromosome pair 6 Double orifice of tricuspid valve Congenital partial portal-systemic shunt Pulmonary valve dysplasia Hypospadias and epispadias Dolichopellic pelvis Multiple congenital cardiac defects Lack of ossification of arch of caudal vertebra Porokeratosis of Mibelli, linear unilateral type Congenital crossed toes Longitudinal deficiency of tibia AND/OR fibula Late secondary abnormalities of the central nervous system Congenital woolly hair Incomplete ossification of metatarsal bone Type 1 lissencephaly Congenital myopathy with uniform fiber type Dubin-Johnson syndrome Thoracic spina bifida without hydrocephalus - open Intramural coronary artery course Radiation chimera Epidermolysis bullosa simplex with hypodontia Congenital redundant rectal mucosa Congenital abnormality of uterus affecting obstetric care Solitary ventricle of indeterminate morphology Systemic to pulmonary collateral artery Nemaline myopathy Congenital anomaly of upper trunk Congenital anomaly of spinal cord Spheno-fronto-parietal craniofaciosynostosis Hypomyelinogenesis congenita Trisomy 22 Lack of ossification of frontal bone Dermatopathia pigmentosa reticularis Tongue tie Dentin dysplasia, type II Genu recurvatum and long leg bone bowing Spina bifida aperta of thoracic spine Incomplete ossification of arch of caudal vertebra Hooded penis Overgrowth of partial upper limb Closed spina bifida with Arnold-Chiari malformation Premature restriction of foramen ovale Overgrowth of upper limb Lack of ossification of talus Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Double outlet right ventricle with subaortic ventricular septal defect Congenital anomaly of face Cebocephaly Epidermolysis bullosa simplex of the hands and feet Papyraceous fetus - delivered Duchenne muscular dystrophy Congenital cleft larynx Multi-core congenital myopathy Hereditary neurocutaneous angiomata Tetralogy of Fallot Congenital absence of pancreas Embedded tooth Fallopian tube and broad ligament anomalies Left ventricular-right atrial communication Peutz-Jeghers syndrome Arrhythmogenic right ventricular dysplasia 5p partial trisomy syndrome Chromosomal alterations of group D Duane's syndrome, type 2 Uterus acollis Azygos continuation of inferior caval vein to right superior caval vein Congenital abnormality of liver and/or biliary tract Congenital anomaly of endocrine ovary Amelogenesis imperfecta - hypoplastic autosomal dominant - local Annular pancreas Abnormal relationship of right ventricle to left ventricle Congenital anomaly of lung Congenital anomaly of genital system Cranial hydromeningocele Congenital disorder of gallbladder and biliary tract Congenital anomaly of muscle AND/OR tendon Combined malformation of central nervous system and skeletal muscle Supraorbital facial cleft - Tessier cleft 12 Hypoplasia of vagina Anomaly of chromosome pair 9 Pleuropericardial cyst Cleidocranial dysostosis Lethal white syndrome of foals Duplication of whole lower limb Syringobulbia Papillon-Lefèvre syndrome Congenital branched rib cartilage Neurocutaneous syndrome Epispadias Brugsch's syndrome Cor triatriatum with some pulmonary veins to proximal chamber draining to right atrium and others connecting directly to left atrium Congenital anomaly of oral mucosa Localized congenital skull defect Congenital anomaly of penis Bilateral deficient infundibula Congenital anomaly of choroid Congenital thickening of forepaw phalanx Incomplete ossification of talus Congenital flat back deformity Limb reduction-ichthyosis syndrome Incomplete ossification of forepaw phalanx Defect of telencephalic division Sjögren-Larsson syndrome Partial hypoplasia of optic disc Common arterial trunk and widely separate origin of pulmonary arteries Autosomal recessive muscular dystrophy not predominantly limb girdle 11q partial monosomy syndrome Non-bullous ichthyosiform erythroderma Polycystic disease of pancreas Partial trisomy 13 in Patau's syndrome Congenital anomaly of ischium Congenital pulmonary venous atrium Megacystis, microcolon, hypoperistalsis syndrome Posterior perimaxillary faciosynostosis Arterial anomaly of umbilical cord Congenital anomaly of back Medullary sponge kidney with nephrocalcinosis Prominent valve of inferior vena cava Ulnar dimelia Keratoderma with scleroatrophy of the extremities Aortic tunnel Congenital abnormality of left atrioventricular valve in double inlet ventricle Congenital omphalocele Incomplete great vessel transposition Multiple mitral papillary muscles with hammock valve Absent eyebrow Proximal interphalangeal joint symphalangism Constriction ring of lower limb Homologous chimera Congenital atresia of ejaculatory duct Olivary heterotopia Left sided atrium connecting to left ventricle Congenital malposition of claw Lack of ossification of nasal bone 12p partial trisomy syndrome Sex phenotype-karyotype dissociation syndrome Corneal size and shape anomalies Familial focal facial dermal dysplasia Craniometaphyseal dysplasia - mild type Congenital phimosis Nemaline myopathy, early onset type Congenital epulis of newborn Multiple pterygium syndrome Lattice corneal dystrophy, isolated form Ankyloblepharon filiforme adnatum Congenital abnormality of scrotum Branchial cleft anomaly Lack of ossification of basioccipital bone Esophageal atresia, stenosis and fistula Isolation of branch of aortic arch Anomalies of great veins Hypoplasia of spine Inherited epidermolysis bullosa Congenital sclerocornea Left atrial endocardial fibroelastosis Congenital cystic ear Cortical dysplasia Congenital hydrocephalus Stunted embryo Congenital mesocolic hernia Cerebro-oculo-facio-skeletal syndrome Cervical spina bifida without hydrocephalus - closed Thoracic spina bifida Accessory eye muscles Tubule of paroophoron Nevus sanguineous Thoracic spina bifida with hydrocephalus Specified anomalies of choroid Anomaly of chromosome pair 5 Congenital anomaly of supraoccipital bone Talipes Congenital heart block Male with sex chromosome mosaicism Dandy-Walker syndrome Lethal autosomal recessive epidermolysis bullosa simplex Congenital cholesteatoma Ocular melanosis Congenital transverse mandibular hypoplasia Giant porokeratosis Congenital anomaly of skin Major partial trisomy Laryngeal cleft type IV Congenital entropion Congenital abnormal fusion of presphenoid bone Ductus venosus abnormality Congenital muscular dystrophy with arthrogryposis multiplex congenita Myelinated nerve fibers of optic disc Windblown hand Dumbbell ossification of centrum of cervical vertebra Congenital genu recurvatum PIBIDS syndrome, photosensitivity with IBIDS Ectopic tissue in lung Porokeratosis of Mantoux Dentinogenesis imperfecta - Shield's type I Plantarflexed cuboid Cobb's syndrome Bifid kidney Acephalothorax Cochleate uterus Earpit syndrome Keratolytic winter erythema Intrinsic enamel discoloration of erythroblastosis fetalis Congenital abnormality of ductus arteriosus Congenital overgrowth of distal lower limb Pharyngeal pituitary tissue Congenital abnormal shape of spleen Lung agenesis, hypoplasia and dysplasia Congenital abnormal fusion of carpal bone 12p partial monosomy syndrome Dysgenesis of the cerebellum Abnormal atrioventricular connection Diffuse retinal dysplasia Congenital thickening of rib Dilatation of tricuspid annulus Proximal aortopulmonary window with minimal inferior rim Ear osseous meatus atresia Lower moiety ureter of duplex kidney Congenital fecaliths causing obstruction Diffuse palmoplantar keratoderma of Thost-Unna Unicoronal craniosynostosis Congenital overgrowth of partial lower limb Congenital anomaly of skull Hypertelorism Hypoplasia of optic disc Cutis laxa, autosomal dominant Congenital convoluted ureter Amyelia 15q partial trisomy syndrome Genetic disorder carrier Spina bifida of cervical region Hypoplastic chondrodystrophy Incomplete ossification of zygomatic bone Congenital anomaly of bone and joint Congenital tracheomalacia Dysgenesis of corpus callosum Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Congenital urethral valve Congenital anomaly of azygos vein Rotational orbital dystopia Imperforate ventriculoarterial valve Congenital anomaly of pancreas Atresia of anterior urethra Acrania Transverse arrest metacarpal first ray Certain congenital musculoskeletal deformities Congenital cyst of canal of Nuck Double ureter Trilobular liver Lack of ossification of rib Deletion of part of autosome Maleformatio ectodermalis generalisata of Bafverstedt Congenital anomaly of palatine bone Vitelline duct polyp Congenital anomaly of lymphatic structure of trunk Bipartite ossification of supraoccipital bone Dyschromatosis universalis Congenital anomaly of carpal bone Congenital palato-esophageal incoordination 2q partial trisomy syndrome Posteromedial muscle band Enamel spur Thoracolumbar spina bifida without hydrocephalus - closed Amelogenesis imperfecta Potter's facies Congenital anomaly of appendix Klinefelter's syndrome - male with 46 XX karyotype Hirschsprung's disease and allied congenital conditions Bicornuate uterus - baby delivered Myxomatosis of cardiac valve Congenital stenosis of eustachian tube Persistent fetal uterus Pancreatic colipase deficiency Pseudocoarctation of aorta Pyelon triplex Persistent fetal circulation syndrome Localized macrodontia Hyperplasia of pancreatic islet beta cell Congenital anomaly of macula Uterus cordiformis Paramedian facial cleft - Tessier cleft 3 Congenital renal failure Right dominant coronary system Cerebrofacial dysplasia 14q partial proximal trisomy syndrome Lack of ossification of centrum of lumbar vertebra Partial tetrasomy 9 syndrome Congenital anomaly of vitreous body Complete trisomy 14 syndrome Non-neurologic xeroderma pigmentosum Pelvis justo minor Congenital anisocoria Inherited disorder of keratinization Cervical spina bifida with hydrocephalus - open Anomaly of chromosome pair 2 Disseminated superficial actinic porokeratosis Incomplete ossification of centrum of thoracic vertebra Xeroderma pigmentosum, group B Keratosis follicularis Autosomal dominant muscular dystrophy with gene located at 5q31 Imperforate right ventriculoarterial valve Congenital heart disease Xeroderma pigmentosum, group E Preductal interruption of aorta Nail dystrophy due to Darier's disease Congenital anomaly of peripheral nerve Congenital abnormality of systemic vein Anorectal anomaly Persistence of primitive artery Incomplete ossification of radius Congenital anomaly of thyroid cartilage Hereditary splenic hypoplasia Monosomy 21, mosaicism Merosin deficient congenital muscular dystrophy Colloid cyst of third ventricle Isomerism of atrial appendages Congenital anomaly of radius Enamel-renal syndrome Cordate pelvis Congenital abnormality of aortic valve cusp Ectromelia Allantoic cyst Congenital hypertrichosis 17p partial trisomy syndrome Congenital anomaly of retina Congenital short urethra Dumbbell-shaped cartilaginous centrum of sacral vertebra Preauricular sinus and fistula Congenital anomaly of nervous system Congenital anomaly of ureter Congenital anomaly of exoccipital bone Lack of ossification of lacrimal bone Granular cell hypoplasia Café-au-lait spots and ring chromosome 11 Congenital fissure of tongue Progressive palmoplantar keratoderma of Greither Bilateral craniofacial microsomia Congenital clubnail Congenital anomaly of maxilla Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication Levoatrial cardinal vein Congenital buried penis Congenital anomaly of thoracic cage Omphalocele - irreducible Ectopic bone and cartilage in lung Congenital anomaly of gallbladder Solitary arterial trunk Karyotype 46, X iso (Xq) Gingival cyst of newborn Intermediate aortopulmonary window with adequate superior and inferior rim Congenital splenorenal shunt Diastematomyelia Encephalocystocele Common arterial trunk with obstruction of aortic arch Abnormal atrioventricular connection - univentricular Congenital anomaly of larynx Lack of ossification of arch of cervical vertebra Bone and joint malformation Hypoplasia of pulmonary valve Congenital calculus of kidney Congenital curly toes Thoracoceloschisis Congenital polyneuropathy Multiple intracardiac shunts Common arterial trunk with isolated pulmonary artery Indeterminate atrial arrangement Miller Dieker syndrome Incomplete ossification of nasal bone Congenital abnormal shape of carpal bone Myopathy with cytoplasmic inclusions Congenital hypothyroidism with ectopic thyroid Carpenter's syndrome Lumbar spina bifida without hydrocephalus - open Mosaic including XXXXY Mittendorf dot Posterior segment vascular anomalies Secondary dental arch length loss Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract Congenital anomaly of tongue, salivary gland AND/OR pharynx Stenosis of systemic to pulmonary artery collateral artery Congenital corneal keloid Congenital vesicoureterorenal reflux, bilateral Congenital redundant colon Parieto-occipital craniosynostosis Congenital abnormality of uterus - baby delivered Double outlet right ventricle with intact ventricular septum Lack of ossification of hindpaw phalanx Imperforate vagina Follicular ichthyosis Congenital anomaly of jaw Acromelanosis Whole chromosome trisomy, meiotic nondisjunction Divided left atrium Ulegyria Congenital anomaly of face bones 5p partial monosomy syndrome Nodular embryo Congenital organoaxial volvulus of stomach Congenital nuclear ophthalmoplegia Thoracolumbar spina bifida with hydrocephalus - closed Xeroderma pigmentosum, group D Incomplete ossification of arch of cervical vertebra Hypoplasia of cardiac vein Undergrowth of upper limb Naso-palatine duct cyst Turner's phenotype, partial X deletion karyotype Epitheliogenesis imperfecta lingua bovis Double outlet right ventricle with noncommitted ventricular septal defect Severe autosomal recessive muscular dystrophy of childhood - North African type Cervical auricle Congenital anomaly of presphenoid bone Lack of ossification of tarsal bone Congenital micrognathism Congenital iris ectropion Keratitis ichthyosis and deafness syndrome Right ventricular outflow tract abnormality Congenital absence of hindpaw phalanx Duane's syndrome, type 3 Congenital aplasia of prostate Failure of differentiation of bones of lower limb Congenital eventration of left crus of diaphragm Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Criss-cross heart Congenital anomaly of the urinary system Jervell and Lange-Nielson syndrome Interatrial communication through coronary sinus orifice Longitudinal deficiency of fibula Biliary malformation associated with renal tubular insufficiency Congenital anomaly of the peripheral nervous system Supraorbital facial cleft - Tessier cleft 13 Longitudinal deficiency of femur Cervical spina bifida with hydrocephalus - closed Pericardial diverticulum Junctional epidermolysis bullosa mitis Funnel-shaped pelvis Epispadias, male Bilateral atria Craniotabes 18p partial trisomy syndrome Congenital thickening of hindpaw phalanx Atrial septal defect through coronary sinus orifice Incomplete ossification of tarsal bone Sotos' syndrome Sectorial hypoplasia of optic disc Cutis marmorata Inherited cutis laxa Incomplete ossification of frontal bone Pre-eruptive color change of tooth Scapulohumeral muscular dystrophy Elephantiasis neurofibromatosa Ectopic thyroid tissue Autosomal dominant familial woolly hair Bullous ichthyosis Whole chromosome trisomy - meiotic nondisjunction Congenital anomaly of lower alimentary tract Congenital systemic venous atrium Ring chromosome 4 syndrome Cervical myelocystocele Small left colon syndrome Congenital anomaly of lacrimal bone Congenital dislocation of elbow Congenital anomaly of body cavity Medullary sponge kidney without nephrocalcinosis Blepharophimosis syndrome Keratoderma with mental retardation and spastic paraplegia Congenital hereditary endothelial dystrophy,CHED 2 Cutaneous lesion resulting from spinal dysraphism Obstructive Eustachian valve Left ventricular outflow tract atresia Porokeratosis of Mibelli, superficial disseminated type Penta X syndrome Longitudinal deficiency of tarsal bone Tripartite right ventricle Congenital rhabdomyoma of heart Double eyebrow Hydatid cyst of Morgagni - male Distal interphalangeal joint symphalangism Congenital abnormal fusion of forepaw phalanx Facioscapulohumeral muscular dystrophy Congenital anomaly of trachea Lack of ossification of palatine bone Anomalous implantation of ureter Left sided atrium connecting to right ventricle Beckwith-Wiedemann syndrome Congenital hypoplasia of spleen Bipartite ossification of centrum of caudal vertebra Osteopetrosis Nemaline myopathy, late onset type Short preputial frenulum Congenital anomaly of digestive organ Persistent left posterior cardinal vein Congenital anomaly of tricuspid valve Congenital retraction of nipple Lobulated tongue Hyperplastic chondrodystrophy Congenital tarsal kink Bilateral superior vena cava Liver and/or biliary duplication Prepapillary vascular loop Optic disc vascular anomaly Completely unroofed coronary sinus defect in left atrium Functionally congenital single lung Developmental anomaly of vitelline duct Isolation of brachiocephalic trunk Lack of ossification of basisphenoid bone Congenital pseudoporencephaly Triphalangeal great toe Localized cortical dysplasia Congenital keratoderma Congenital anomaly of urethra Congenital anomaly of pulmonary veins Congenital hydrocalicosis Hypoplasia of eye muscle Thoracic spina bifida without hydrocephalus - closed Malformation of urachus Mixed hemangioma Lumbar spina bifida with hydrocephalus Pallister-Killian syndrome 1p partial monosomy syndrome Congenital epicardial cyst 11p partial trisomy syndrome Aberrant course of coronary artery between aorta and pulmonary trunk FRAXA Cutis laxa, autosomal recessive Brachycephaly Congenital anomaly of thoracic vertebra Ichthyosis hystrix Klinefelter's syndrome, XXY 1q partial monosomy syndrome Congenital alveolar hypoplasia of mandible Disseminated superficial porokeratosis Minor partial trisomy Hydromyelia Primary seborrhea Transverse deficiency of hand Congenital anomaly of upper alimentary tract Incomplete ossification of calcaneus 20q partial trisomy syndrome Myelodysplasia of the spinal cord Uterus bicornuatus vetularum Ullrich congenital muscular dystrophy Congenital anomaly of pleural folds Solitary multilocular renal cyst Paravaginal cyst arising in mesonephric duct Dumbbell ossification of centrum of lumbar vertebra Congenital abnormality of tricuspid chordae tendinae Dental midlines coincident and incorrect Ichthyosis follicularis with alopecia and photophobia (IFAP) Dentinogenesis imperfecta - Shield's type II Congenital ectodermal defect Congenital anomaly of renal pelvis Bipartite right ventricle Bregeat's syndrome Pelvis justo major Hypoplasia of spleen Keratolysis exfoliativa Amelogenesis imperfecta, hypocalcification type Talipes equinus Congenital ischemic atrophy of central nervous system structure Female pseudohermaphroditism Congenital overgrowth of foot Ectopic gastric mucosa Congenital myelin deficiency of the optic disc Single umbilical artery Abnormal atrioventricular connection - biventricular Congenital thickening of scapula Ear osseous meatus stricture Congenital midvalvar ring of mitral leaflet Myocardial bridge of coronary artery Congenital anomaly of digit Bicoronal craniosynostosis Incomplete ossification of lacrimal bone Ear auricle and external auditory canal absent Spina bifida with hydrocephalus of late onset Congenital undergrowth of partial lower limb Congenital anomaly of broad ligament Dominant dystrophic epidermolysis bullosa Congenital prognathism Additional sex chromosome Congenital conduction defect Accessory tissue on aortic valve cusp Aortopulmonary window with tubular connection Congenital atresia of epiglottis Splayleg in piglets Harlequin ichthyosis Retrosternal thyroid gland Congenital abnormality of external ear Autosomal dominant ichthyosis Congenital bronchomalacia Right atrial endocardial fibroelastosis Ring chromosome 11 syndrome Congenital anomaly of basioccipital bone Benign congenital hypotonia Congenital abnormality of skull and face bones Hypogonadism with anosmia Ichthyosis hystrix gravior of Rheydt Duplication of whole hand Ectopic liver Congenital anomaly of musculoskeletal structure of trunk Congenital anomaly of parietal bone Lack of ossification of scapula Congenital anomaly of peripheral blood vessel Fetus papyraceous Cavernous lymphangioma of skin Trisomy 9 Localized abdominal wall skin atrophy Congenital focal enlargement of rib Autosomal dominant epidermolysis bullosa simplex Congenital hypoplasia of tympanic anulus Malformation of throat Aortic arch centrally descending Congenital anomaly of metacarpal bone Congenital anomaly of cartilage Fissured spine Longitudinal deficiency of limb Mummified fetus Alacrima Nasal glial heterotopia Klinefelter's syndrome, XXYY Manifesting female carrier of X-linked muscular dystrophy Right sided atrium connecting to both ventricles Congenital anomaly of organ of Corti Lumbosacral agenesis Congenital malposition of forepaw phalanx Acrocephalosyndactyly type I Idiopathic congenital megacolon Bicornuate uterus affecting obstetric care Congenital anomaly of iris Congenital anomaly of vena cava Congenital anomaly of fallopian tubes Single ventricular outlet above right ventricle Hypoplasia of aorta Congenital spondylolisthesis of cervical vertebra Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with extracardiac pulmonary venous chamber communication Congenital anomaly of talus Manus plana 12q partial trisomy syndrome Encephalocele of orbit Congenital clubbing Localized microdontia Anomaly of chromosome pair 13 Open bite Trisomy 13 - mitotic nondisjunction mosaicism Multiple benign annular creases of extremities Gynandromorphism syndrome Left dominant coronary system Primary right ventricular endocardial fibroelastosis Anomaly of chromosome pair 14 Congenital anomaly of lower limb Lack of ossification of centrum of sacral vertebra Thoracoschisis Congenital anomaly of the pelvis Abnormal dermatoglyphic pattern Colpocephaly Congenital blindness Congenital anomaly of perineum Benign autosomal dominant osteopetrosis Anomaly of chromosome pair 15 Descending aorta anterior and same side as azygos vein with azygos continuity of inferior caval vein Ear, face and neck congenital anomalies Erythrokeratoderma Spina bifida with hydrocephalus Thoracic spina bifida with hydrocephalus - open Hitch-hiker thumb Common arterial trunk with crossed over pulmonary arteries Vascular compression of esophagus by aberrant artery Late onset proximal muscular dystrophy with dysarthria Congenital anomaly of third eyelid Precocious exfoliation related to ectopic eruption of proximate tooth 21q partial trisomy syndrome Divided left atrium with nonrestrictive outlet of proximal chamber to left atrium Persistent cerebral embryonic artery Congenital anomaly of vas deferens Incomplete ossification of rib Robert's pelvis Humeroulnar synostosis Primary endocardial fibroelastosis Pseudo-polycoria Kohlschutter's syndrome Isomerism of right atrial appendage Anomaly of chromosome pair 21 Walker-Warburg congenital muscular dystrophy Localized congenital cutis laxa Congenital abnormality of cardiac vein Dumbbell-shaped cartilaginous centrum of thoracic vertebra Congenital anomaly of vagina Lunate-triquetrum synostosis Preauricular sinus Congenital melanosis of sclera Megacystis-megaureter syndrome Lack of ossification of mandible Lissencephaly Congenital anomaly of fetal head bones Jaw congenital deformities Congenital anomaly of mandible Epidermolytic palmoplantar keratoderma of Vorner Congenital anomaly of ocular adnexa Congenital labial adhesions Bronchopulmonary isomerism Recessive dystrophic epidermolysis bullosa Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium Ambiguous genitalia Abnormality of right superior vena cava Hypoplasia of brain gyri Congenital anomaly of female genital system Congenital intrahepatic portal-systemic shunt Interrupted left inferior caval vein Congenital abnormality of pulmonary valve cusp Confluent aortopulmonary window with minimal superior and inferior rim Karyotype 46, X with abnormal sex chromosome except iso (Xq) Double inlet ventricle Congenital thoracostenosis Congenital neuropathy with arthrogryposis multiplex congenita Congenital ringed hair Incomplete ossification of palatine bone Type 2 lissencephaly Misplaced ear 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Lithopedian Sacral spina bifida without hydrocephalus - open Tubule of epoophoron Concrescence of teeth 7q partial monosomy syndrome Myopathy with tubular aggregates Congenital abnormality of ventricles and ventricular septum Tubular hypoplasia of aorta Coronary artery runs between aorta and pulmonary trunk Congenital commissural pits Congenital hypoplasia of forepaw phalanx Dental arch length loss secondary to congenitally missing teeth X-linked ichthyosis with steryl-sulfatase deficiency Congenital anomaly Epidermolysis bullosa simplex herpetiformis Bronchopulmonary collateral artery Congenital abnormality of uterus - baby delivered with postpartum complication Ventricular imbalance Sturge-Weber syndrome Whole chromosome trisomy, mosaicism Interparietal craniosynostosis Congenital vascular anomaly of eye Laryngeal cleft type I Posteriorly rotated ear Supramitral left atrial ring Anomaly of chromosome pair 17 Congenital anomaly of liver Hydrorhachis Hemimyelocele Harlequin fetus Incomplete ossification of arch of lumbar vertebra Goniodysgenesis Undergrowth of whole upper limb Autosomal recessive muscular dystrophy with gene located at 15q Congenital hereditary endothelial dystrophy,CHED 1 Turner's phenotype - ring chromosome karyotype Branchial cleft cyst Lack of ossification of tibia Congenital anomaly of pubis Fibrous skin tumor of tuberous sclerosis Congenital hydronephrosis Lamellar ichthyosis (limited type) Cat eye syndrome Segmental uterine aplasia Goltz syndrome Mandibular retrognathism Longitudinal deficiency of carpal bone Monosomy and deletion from autosome Coronary sinus defect in left atrium Triploidy syndrome Erythrokeratodermia variabilis 13q partial trisomy syndrome Congenital abnormality of hepatic vein Lithopedion Congenital aplasia of round ligament Congenital synostosis of lower limb bones Papyraceous fetus - not delivered Microdysgenesis Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Congenital corneal opacity not interfering with vision Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium Thoracic spina bifida with hydrocephalus - closed Oral lymphangioma Infraorbital facial cleft - Tessier cleft 4 Double Y syndrome Ring chromosome 18 syndrome 9p partial monosomy syndrome Chromosomal alterations of group E Cicatricial junctional epidermolysis bullosa Duplex ureter structure Oromandibular-limb hypogenesis spectrum Anomaly of chromosome pair 22 16q partial trisomy syndrome Status marmoratus Bilateral isomeric atria Moon's molar teeth Congenital anomaly of cervix 18p partial monosomy syndrome Congenital abnormality of arterial valves Incomplete ossification of tibia Bipartite ossification of centrum of thoracic vertebra Congenital anomaly of the hand Keratoderma plantare sulcata Congenital thickening of humerus Leydig cell agenesis Congenital anomaly of adrenal gland Coffin-Lowry syndrome Congenital penoscrotal transposition Neonatal cutis laxa with marfanoid phenotype Anomaly of cricoid cartilage Congenital corneal opacity Muscle eye brain disease Incomplete ossification of hindpaw phalanx Constriction ring of upper limb Duplication of femur Autosomal dominant muscular dystrophy not predominantly limb girdle Autosomal recessive familial woolly hair Pili annulati Congenital folds and cysts of the posterior segment Commissural fusion of aortic valve Vascular anomaly of umbilical cord Thoracic myelocystocele Congenital anomaly of body wall Bullous ichthyosiform erythroderma Whole chromosome monosomy - mitotic nondisjunction mosaicism Congenital obstructive defect of renal pelvis Neuronal intestinal dysplasia Vomero-premaxillary faciosynostosis Congenital abnormal shape of forepaw phalanx Anomaly of sex chromosome Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Polymorphous corneal dystrophy Infantile malignant osteopetrosis Congenital anomaly of visual system Indeterminate ventricular outflow tract obstruction Congenital anomaly of calcaneus Oculopharyngeal muscular dystrophy Longitudinal deficiency of metatarsal bone Xeroderma pigmentosum, group G Constriction ring of lower limb with lymphedema Congenital hydrocele Left sided atrium connecting to both ventricles Congenital anomaly of the kidney Ectopic pancreas in duodenum Short rib-polydactyly syndrome, Majewski type Trisomy X syndrome Lack of ossification of parietal bone Congenital cerebral cyst Bicornuate uterus complicating postpartum care - baby delivered during previous episode of care Dwarf pelvis Bipartite ossification of centrum of cervical vertebra Spina bifida of lumbar region Congenital parameatal cyst Aorta to right ventricle tunnel Persistent hyperplastic primary vitreous Nance-Horan syndrome Congenital abnormality of thoracic aorta and pulmonary arteries Hypoplasia of lower limb Chimera 46, XX; 46, XY Low assimilation pelvis Trisomy 21- meiotic nondisjunction Euryblepharon Absent bridging vein Congenital anomaly of uvula XY, female phenotype Eisenmenger's syndrome Lack of ossification of calcaneus Juvenile pelvis Congenital keratoconus posticus circumscriptus Lumbar spina bifida without hydrocephalus - closed Branchial cleft Xeroderma pigmentosum, group A Midline facial cleft - Tessier cleft 0 18q partial monosomy syndrome Congenital malrotation of claw Genitoperineal raphe cyst Venous anomaly of umbilical cord Hypoplasia of upper limb Discordant ventriculoarterial connection Dystrophic epidermolysis bullosa Acrokeratosis verruciformis of Darier disease Bifid scrotum Congenital anomaly of vomer FRAXE Porokeratosis of Mibelli, plaque type Ductus arteriosus from subclavian artery Divided left atrium with restrictive outlet of proximal chamber to left atrium Double uterus affecting pregnancy Incomplete ossification of carpal bone Embryotoxon Transverse arrest metacarpal second to fifth rays Spinal hamartoma Divided left atrium with some pulmonary veins to proximal chamber Aortopulmonary window 17q partial trisomy syndrome Eichsfeld type congenital muscular dystrophy Generalized recessive non-mutilating dystrophic epidermolysis bullosa 21q partial monosomy syndrome Dumbbell ossification of centrum of sacral vertebra Branchial cleft external sinus Specified anomalies of sclera Flexural Darier's disease 7p partial trisomy syndrome Congenital hepatomegaly Congenital sternomastoid tumor High anorectal malformation Congenital cystic bronchiectasis Mis-shapen spleen Congenital anomaly of spinal meninges Congenital non bullous ichthyosiform erythroderma Hereditary palmoplantar keratoderma Patent ductus venosus Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism High assimilation pelvis Cyanotic congenital heart disease Double outlet ventriculoarterial connections Congenital overgrowth of whole lower limb Hypoplasia of the optic nerve Congenital thickening of talus Straddling tricuspid valve Lack of ossification of humerus Congenital abnormality of ascending aorta Congenital pulmonary valve abnormality Cloverleaf skull syndrome Unipartite right ventricle Lateral openbite Generalized epidermolysis bullosa simplex Spina bifida with stenosis of aqueduct of Sylvius Congenital morphological disturbances of hair Congenital leg bone bowing Sex chromosome mosaicism Congenital anomaly of endocrine testis Persistent primary vitreous Ebstein-like downward displacement of mitral valve Hyperplastic tooth follicle Longitudinal deficiency of foot Accessory tissue on truncal valve cusp Microdontia Anomaly of dental arch Duodenal web Abnormal plantar creases Atresia of larynx and trachea X-linked recessive ichthyosis Congenital ectropion of lip Right atrial hypoplasia 20p partial trisomy syndrome Congenital anomaly of basisphenoid bone Autosomal recessive centronuclear myopathy Congenital hypoplasia of claw Congenital anomaly of tracheal cartilage Congenital retinal fold Coronary orifice asymmetrical Congenital anomaly of cardiovascular system Focal nodular hypoplasia of liver Failure of differentiation of bones of forearm Hystrix ichthyosis with deafness Accessory pancreas Lack of ossification of squamosal bone 9q partial trisomy syndrome Congenital diverticulum of ureter Congenital anomaly of paw Aplasia of cerebellum Longitudinal deficiency of lower limb Trisomy 10 Craniosynostosis syndrome Fronto-parietal craniofaciosynostosis Congenital retrognathism Naegeli-Franceschetti-Jadassohn syndrome Macrocolon Congenital anomaly of rib Cervical aortic arch DiGeorge sequence Central core disease Situs inversus viscerum Camptodactyly-little finger Absent blood vessel in umbilical cord Rachischisis with hydrocephalus X-linked limb girdle muscular dystrophy with normal dystrophin Taenzer's hair Four X syndrome Mermaid sirenomelia Right sided atrium connecting to ventricle of indeterminate morphology Bicornuate uterus in pregnancy, childbirth and the puerperium Single ventricular outlet above left ventricle Ebstein's anomaly Congenital anomaly of male genital system Common arterial trunk and common origin of pulmonary arteries Congenital sacrococcygeal anomaly Congenital anomaly of renal blood vessel Reniform pelvis Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with pulmonary venous chamber communication to right atrium Ring chromosome 21 syndrome Trifid kidney Myeloschisis Reticulate pigmented anomaly of flexures Two chambered right ventricle Congenital absence of claw Paired teeth microdontia Spina bifida aperta Group chromosomal alteration Abnormal course of aortic arch Congenital articular rigidity with myopathy Hepatic methionine adenosyltransferase deficiency Congenital heart disease, septal and bulbar anomalies Arachnoid / ependymal cyst Double outlet left ventricle Freemartin Alstrom syndrome Congenital anomaly of intestinal tract Congenital prolapse of bladder mucosa Rachischisis Schprintzen Retroaortic brachiocephalic vein Supraorbital facial cleft - Tessier cleft 8 Dextroposition of ductus arteriosus Microhepatia Hereditary erythrokeratolysis Lumbar spina bifida with hydrocephalus - open Robinson nail dystrophy-deafness syndrome Incomplete ossification of exoccipital bone Persistent fetal circulation Undergrowth of the thumb Localized junctional epidermolysis bullosa 10q partial monosomy syndrome Congenital non-progressive ataxia Henck-Assman disease Congenital ectropion Oligohydramnios sequence Single congenital cerebral cyst Congenital cartilage anomaly of third eyelid Precocious exfoliation of teeth related to idiopathic root resorption Becker muscular dystrophy Congenital anomaly of anterior segment of eye Abnormal infundibular morphology Congenital functional disorders of the colon Incomplete ossification of scapula Weber-Cockayne syndrome Congenital anomaly of lacrimal system Congenital urinary meatus obstruction Cor triatriatum Isomerism of left atrial appendage Isologous chimera Congenital heterochromia iridis Congenital abnormal fusion of tympanic anulus Dermatoglyphs - skin lines Albinotic fundus Muscle-eye-brain disease, congenital muscular dystrophy Congenital anomaly of tooth Preauricular fistula Capitate-hamate synostosis Iniencephaly Nevus comedonicus Congenital mesenteric cyst Megalourethra Erythrodermic lamellar ichthyosis Congenital anomaly of frontal bone Partial trisomy 21 in Down's syndrome Lack of ossification of maxilla Systemic to pulmonary collateral from coronary artery Venous remnant Congenital palmoplantar and perioral keratoderma of Olmsted Anomaly of chromosome Y Straight back syndrome Abnormal left ventricular muscle band Cervical thyroid remnant Congenital anomaly of ulna Divided right atrium Omental cyst Uterus bicameratus vetularum Atretic right superior vena cava Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Xeroderma pigmentosum, group C Double inlet right ventricle Congenital anomaly of pulmonary artery Atresia of pulmonary artery with septal defect Branchial cleft sinus and fistula Marie Unna syndrome Abnormal atrial arrangement Incomplete ossification of parietal bone Micropapilla Congenital hypomyelinating neuropathy Common arterial trunk and separate origin of pulmonary arteries Rotated penis Epidermodysplasia verruciformis Congenital anomaly of sclera 9p partial trisomy syndrome Congenital abnormality of anterior cardiac vein Anomaly of chromosome pair 3 Anomalies of the aorta excluding coarction Congenital tracheal collapse Dental arch length loss secondary to loss of primary precursors Circumflex runs posterior to pulmonary trunk Tetralogy of Fallot with pulmonary stenosis Morning glory disc Spina bifida aperta of lumbar spine Congenital abnormalities of thoracic aortic branches Klinefelter's syndrome Congenital stenosis of larynx, trachea and bronchus Cleft face Lamellar ichthyosis AND trichorrhexis invaginata syndrome Congenital abnormality of uterus complicating antenatal care, baby not yet delivered Congenital anomaly of toe Urachal diverticulum Lack of ossification of arch of lumbar vertebra Anterolateral muscle band 21q partial distal trisomy syndrome Congenital anomaly of testis Imperforate urinary meatus Two atrioventricular valves in double inlet ventricle Generalized macrodontia Posterior open bite Spina bifida with hydrocephalus - open Persistent lanugo Incomplete ossification of arch of sacral vertebra Undergrowth of partial upper limb Anomalous muscle bands of right ventricle Barkan membrane Female with more than three X chromosomes 13q partial monosomy syndrome Pancreas divisum - complete Reunion-Indiana Amish type muscular dystrophy Congenital anomaly of rib cartilage Lack of ossification of tympanic anulus Tuberous sclerosis syndrome Prune belly syndrome Congenital anomaly of peritoneum Epidermolysis bullosa Aganglionosis of Auerbach's plexus Congenital anomaly of eye Congenital abnormality of left atrium Congenital anosmia Complete trisomy 18 syndrome Keratoderma punctata Pulmonary artery connecting to coronary artery via collateral artery Mandibular prognathism Congenital anteversion of femur Infantile pelvis Duplication of lower limb bone Trigonocephaly Dentinogenesis imperfecta Amelogenesis imperfecta - recessive - rough Chromosome replaced with ring or dicentric Infraorbital facial cleft - Tessier cleft 5 Congenital anomaly of skeletal muscle Atypical ichthyosis vulgaris with hypogonadism Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium Ichthyosis congenita with biliary atresia Congenital hypoplasia of nasal turbinate Laryngeal hypoplasia Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle Chromosomal alterations of group F Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Female infertility due to structural congenital anomaly of cervix Mirror hands Corrected transposition of great vessels Malattachment of atrial septum with posterior aspect of septum primum to left Exaggerated cusp of tooth Focal dermal hypoplasia Uterus biforis Abnormal relationship of aortic orifice to pulmonary orifice Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber Congenital thickening of ilium Myotubular myopathy with type I atrophy Incomplete ossification of tympanic anulus Arteriohepatic dysplasia Malaligned outlet septum Constriction ring of upper limb with lymphedema Ring chromosome 1 syndrome Cutis laxa, recessive, type I Incomplete ossification of humerus Multiple lentigines syndrome Benign scapuloperoneal muscular dystrophy Congenital blepharophimosis Klinefelter's syndrome, XY/XXY mosaic Duplication of tibia Persistent hyaloid artery Incomplete formation of the bony cochlea Congenital arthrogryposis due to teratogen Redundant prepuce Congenital bronchiectasis Eccentric opening of aortic valve Pachydermoperiostosis of nail Congenital hyperplasia of intrahepatic bile duct Rothmund-Thomson syndrome Congenital folds of the posterior segment BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Congenital anomaly of heart valve Localized bullous ichthyosiform erythroderma Trisomy and partial trisomy of autosome Hyperganglionosis Congenital anomaly of orbit Interrupted aortic arch distal to left subclavian artery Lumbar myelocystocele Congenital ureteric valves Congenital anomaly of inferior vena cava Turner syndrome Congenital anomaly of cardiovascular structure of trunk Congenital abnormality of tricuspid papillary muscle Congenital anomaly of joint Inherited cutaneous hyperpigmentation Whole chromosome trisomy syndrome Trabecular dysgenesis Anomalous valve of coronary sinus Congenital anomaly of large intestine Peutz-Jeghers polyps of small bowel Congenital anomaly of optic disc Atelencephaly Café-au-lait macules with pulmonary stenosis Fibrocystic kidney disease Hyperplasia of islet alpha cells with gastrin excess Longitudinal deficiency of phalanges of foot Congenital abnormal fusion of hindpaw phalanx Wolffian duct cyst - male Spina bifida without hydrocephalus Intrauterine amputation of lower limb Whole chromosome trisomy - mitotic nondisjunction mosaicism Multiple congenital articular rigidities Crouzon syndrome Congenital anomaly of lumbar vertebra Lack of ossification of premaxilla Congenital inversion of nipple Left sided atrium connecting to ventricle of indeterminate morphology 7p partial monosomy syndrome Congenital malposition of epididymis Port-wine stain associated with spinal dysraphism Congenital hypoplasia of supraoccipital bone Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Bipartite ossification of interparietal bone Congenital anomaly of mouth Congenital anomaly of spleen Doubling of uterus with doubling of cervix and vagina Congenital gingival granular cell tumor Cor triatriatum with some pulmonary veins to proximal chamber draining to left atrium Trisomy 21- mitotic nondisjunction mosaicism 46, XX true hermaphrodite False tendon - heart Anomaly of chromosome pair 11 Accessory tissue on pulmonary valve cusp Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections Posterior embryotoxon Lack of ossification of carpal bone Congenital fissure of epiglottis Cortical dysplasia with hemimegalencephaly Branchial cleft sinus Ichthyosiform erythroderma Neurofibromatosis type 3 Sacral spina bifida without hydrocephalus - closed Duane's syndrome Midline facial cleft - Tessier cleft 14 Microstomia Congenital macrocheilia Total great vessel transposition Localized dystrophic epidermolysis bullosa Congenital volvulus of stomach Medullary sponge kidney Congenital anomaly of zygomatic bone Congenital cardiospasm Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber extracardiac communication Anterior lentiglobus Congenital leg length discrepancy Porokeratosis of Mibelli Neuroenteric cyst and associated malformation Anterior embryotoxon Incomplete ossification of centrum of caudal vertebra Hutterite type of muscular dystrophy Congenital anomaly of bronchus Dystrophic epidermolysis bullosa inverse type Adult junctional epidermolysis bullosa Congenital stenosis of external auditory canal Branchial cleft internal sinus Congenital anomaly of pharynx Macerated fetus Abnormal blue sclerae Imperforate hymen Hypertrophic Darier's disease Congenital ichthyosiform erythroderma Inverted pelvis Congenital anomaly of cornea Low anorectal malformation Palmoplantar keratoderma transgrediens Branchial vestige Deletion seen only at prometaphase XY females Closed ductus venosus Congenital deformity of knee joint Amelogenesis imperfecta, hypoplastic type with microdontia Congenital abnormality of tricuspid leaflet Complete trisomy 13 syndrome Congenital anomaly of the bladder Uterus bilocularis Congenital abnormal shape of supraoccipital bone Congenital accessory skin tag Dentinogenesis imperfecta - Shield's type III Congenital undergrowth of lower limb Discordant atrioventricular connection Lack of ossification of hyoid bone 8p partial trisomy syndrome Congenital abnormality of pulmonary trunk Congenital abnormality of skull shape Congenital anomaly of artery Lateral openbite - right 10q partial trisomy syndrome Primary congenital bronchomalacia Osteopetrosis - unclassified Reifenstein syndrome Mosaic XO/XY Assimilation pelvis Anomalies of pancreas Anterior leaflet of mitral valve attached to septum 3p partial trisomy syndrome Double outlet from ventricle of indeterminate morphology Congenital abnormality of lacrimal drainage system 14q partial trisomy syndrome Congenital portal-systemic shunt Mesenteric cyst Collaterals to pulmonary arteries Congenital stricture of osseous meatus Autosomal recessive ichthyosis Ichthyosis linearis circumflexa Medullary cystic disease OS Anomaly of chromosome X Incomplete ossification of mandible Persistent thyroglossal duct Myopathy with abnormality of histochemical fiber type Bilateral trilobed lungs due to isomerism of right lung Congenital hypoplasia of epididymis Deletion of long arm of chromosome 18 Pancreatic duct anomaly Duplication of upper limb Dual coronary orifice Sex chromosome abnormality - female phenotype Porcupine man Congenital anomaly of pelvic bones Acrokeratosis verruciformis of Hopf Congenital anomaly of neural structure of trunk Congenital polyp of ureter Spinal dysgenesis Ectopic fetus 18q partial trisomy syndrome Trisomy 11 Cervical, vaginal and external female genital anomalies Symmetrical dyschromatosis of extremities Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle Congenital epiblepharon-inferior oblique syndrome Myelocele with hydrocephalus Congenital torticollis Ring chromosome 10 syndrome Imperforate lacrimal punctum Liver hyperplasia Fibrolipoma of filum terminale Opocephalus Ji muscular dystrophy Abnormal ventriculoarterial connection Axenfeld anomaly Congenital malposition of hindpaw phalanx Incontinentia pigmenti syndrome Congenital anomaly of cricoid cartilage Congenital stenosis of esophagus Congenital anomaly of foot Congenital abnormality of great cardiac vein Cerebral cortical dysgenesis Heterologous chimera Hereditary clubbing Lethal glossopharyngeal defect Single tooth microdontia Chromosomal alterations of group A Congenital absence of epididymis Dyskeratosis congenita Frog fetus Beaked pelvis Sarcotubular myopathy Anomalous portal vein termination Congenital macular corneal dystrophy Congenital hourglass bladder Cerebellar aplasia Klinefelter's syndrome XXXY Fetal postural deformity Congenital pancreatic trypsin deficiency Supraorbital facial cleft - Tessier cleft 9 Sacral spina bifida with hydrocephalus - open Incomplete ossification of femur Balanced coronary system Hereditary acantholytic dermatosis Congenital anomaly of neck Inverse junctional epidermolysis bullosa Acephalocheiria Bronchial atresia with segmental pulmonary emphysema Hypopigmentation of third eyelid Congenital anomaly of epiglottis Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting directly to left atrium Ebstein-like malformation of the mitral valve Congenital eventration of right crus of diaphragm Multiple congenital cerebral cysts Cervical malformation - malarticulation Congenital myopathy with abnormal subcellular organelles Precocious exfoliation of teeth related to root resorption associated with trauma Subpulmonary infundibulum Persistent common pulmonary vein Cryptotia Venous valvular anomaly Intrauterine amputation of upper limb Incomplete ossification of squamosal bone Congenital cyst of iris Mirror imaged atria Mesatipellic pelvis Hemimyelia Distal muscular dystrophy, Miyoshi type Congenital ichthyosis of skin Spina bifida occulta Axillary freckling due to neurofibromatosis Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle Congenital hereditary endothelial dystrophy Congenital anomaly of limb Gallbladder anomalies Spina bifida of sacral region Congenital urethral syringocele Scaphoid-lunate synostosis Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu Congenital anomaly of hyoid bone Lack of ossification of metacarpal bone Arthrogryposis Congenital mandibular hypoplasia Congenital muscular hypertrophy-cerebral syndrome Cervical thymic remnant Circumscribed palmoplantar keratoderma Congenital anomaly of abdominal wall Imperforate pectinate glaucoma Primary left ventricular endocardial fibroelastosis Netherton's syndrome Persistent descending vein Anomaly of chromosome pair 20 Mullerian remnant Congenital anomaly of femur Acrosyndactyly of upper limb Acyanotic congenital heart disease XXXXY syndrome Absent right superior vena cava Congenital abnormal shape of tympanic anulus 3q partial trisomy syndrome Ankyloblepharon Dysgenesis of the brainstem Mosaicism 45, X / other cell line with abnormal sex chromosome Congenital absence of liver and/or gallbladder Atlanto-occipital malformation Double inlet left ventricle Congenital malposition of carpal bone Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch XXYY syndrome Short rib-polydactyly syndrome, non-Majewski type Late congenital syphilitic polyneuropathy Periventricular leukomalacia Congenital fusion of pulmonary valve segment Renal pelvis and ureter obstructive defects Bulbus cordis and cardiac septal closure anomalies Incomplete ossification of premaxilla Congenital anomaly of posterior segment of eye Truncus arteriosus, Edwards' type IV Spina bifida without hydrocephalus - closed Diphallus Congenital anomaly of blood vessel of upper limb Dental arch length loss secondary to loss of permanent teeth Tetralogy of Fallot with pulmonary atresia Circumflex runs posterior to aorta Buccal bifurcation cyst Congenital anomaly of nose Congenital malformation of pancreas Congenital abnormality of uterus complicating postpartum care - baby delivered during previous episode of care Malattachment of atrial septum Parkes Weber syndrome Cleft mandible Lack of ossification of arch of sacral vertebra Ring chromosome 9 syndrome Congenital vesico-ureteric reflux Congenital abnormality of nipple Impervious urethra Duct of epoophoron Epidermolysis bullosa simplex Incomplete ossification of arch of thoracic vertebra Undergrowth of whole limb Congenital muscular dystrophy Syringomyelobulbia Congenital anomaly of stomach Congenital anomaly of myocardium Mosaicism - lines with various numbers of X chromosomes Congenital ball and socket ankle Acrosyndactyly of the thumb Congenital macrognathism Epidermolysis bullosa simplex with mottled pigmentation Lack of ossification of ulna Pancreas divisum - incomplete Congenital anomaly of sacral vertebra Microgenia Polycoria Ichthyosis, cerebellar degeneration and hepatosplenomegaly Congenital anomaly of breast Laryngeal cleft type II Congenital anomaly of gastrointestinal tract Varices of umbilical cord Floppy infant syndrome Congenital corneal opacity interfering with vision Hyperplasia of islet alpha cells with glucagon excess Congenital functional disorders of the small intestine Lipomeningocele Familial mesangial sclerosis Congenital deformity of chest wall 4p partial monosomy syndrome Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve Congenital abnormality of middle cardiac vein Epoophoron Translocation Down syndrome Anomaly of chromosome pair 8 Congenital overgrowth of lower limb Common arterial trunk (truncus arteriosus) Rudimentary nipple Amelogenesis imperfecta - hypomaturation - recessive pigmented Odontogenesis imperfecta Dyke-Davidoff syndrome Congenital contracted pelvis Congenital vascular disorder Discontinuous pulmonary arteries Congenital anomaly of integument Keratosis pilaris with ichthyosis and deafness Atelomyelia Infraorbital facial cleft - Tessier cleft 6 Congenital laryngomalacia Chromosomal alterations of group G and Y Congenital billowing of mitral valve leaflet Congenital abnormality of right atrioventricular valve in double inlet ventricle Congenital anomaly of ossicles of ear XX males Congenital choledochal cyst Retinal dysplasia Congenital anomaly of endocrine gonad Pigmented xerodermoid Congenital abnormality of atrioventricular valves in atrioventricular septal defect Congenital thickening of ischium Pili torti L - transposition of the great vessels Congenital anomaly of musculoskeletal system Lumbar spina bifida with hydrocephalus - closed Congenital anomalies of elbow and upper arm Cutis laxa, recessive, type II 6p partial trisomy syndrome Specified optic disc anomalies XTE syndrome Incomplete ossification of hyoid bone Duplication of fibula 8q partial monosomy syndrome Female infertility due to structural congenital anomaly of vagina Mondini defect Congenital anomaly of eyelid Congenital cysts of the posterior segment Congenital anomaly of aorta Caudal dysplasia sequence Genetic abnormality of hair shaft Functionally univentricular heart Ichthyosis bullosa of Siemens Ebstein's anomaly with functional tricuspid stenosis Generalized intestinal dysmotility Faun tail syndrome Congenital anomaly of epidermal appendages Interrupted aortic arch between left subclavian and left common carotid artery Triplex ureter Splenoportal vascular anomaly Talipes calcaneovarus Trisomy 6 Prune belly syndrome with pulmonic stenosis, mental retardation and deafness Congenital pelvic obliquity Orbital dystopia Congenital anomaly of tarsal bone Congenital anomaly of cerebrovascular system Mirror image bronchial anatomy Pulmonary tuberose sclerosis Abnormal fetus Café-au-lait macules with temporal dysrhythmia Aprosencephaly Wolffian duct cyst - female Constriction ring syndrome of lower limb with amputation Rudimentary patella Congenital uterine anomaly Ulnar and humeroulnar synostosis Duplication of whole limb Bertolotti's syndrome X-linked muscular dystrophy with limb girdle distribution Eruption cyst Congenital anomaly of nasal bone Genodermatosis Congenital anomaly of mitral valve Lack of ossification of presphenoid bone Left ventricle outflow chamber Orbital separation diminished Cutaneous lesion resulting from spina bifida Congenital thickening of femur Bipartite ossification of centrum of lumbar vertebra Congenital anomaly of duodenum Genitourinary congenital anomalies 14q partial distal trisomy syndrome Cyclops Exencephaly Single ventricular outlet above both ventricles Bicornuate uterus complicating antenatal care, baby not yet delivered Lack of ossification of centrum of caudal vertebra 1q partial trisomy syndrome Congenital umbilical defect Ebstein's anomaly with atrial septal defect Simple ureterocele Right hypoplastic heart syndrome Bicuspid truncal valve Early secondary malformation of the central nervous system Epstein's pearl Segmental neurofibromatosis Congenital leukonychia Horner's teeth Midline facial cleft - Tessier cleft 30 Congenital anomalies of fetus Congenital coronary artery calcification Localized recessive dystrophic epidermolysis bullosa Congenital abnormality of mitral subvalvular apparatus Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect Duplication seen only at prometaphase Hepatomphalocele Pancreas divisum Blunderbuss pelvis Giant left atrium Complete situs inversus with dextrocardia Mixed congenital myopathy Congenital atresia of osseous meatus of middle ear Neuroenteric cyst Incomplete ossification of centrum of cervical vertebra Fetal trimethadione syndrome Congenital abnormal fusion of supraoccipital bone Duplication of lower limb Aortic root congenital abnormality Adult onset autosomal recessive muscular dystrophy with normal dystrophin Megacalycosis Carpal synostosis Anomaly of chromosome pair 16 Congenital malposition of nasal turbinate Lip hypertrophy Linear/nevoid/zosteriform Darier's disease Ichthyosis vulgaris Congenital anomaly of lens Ductus arteriosus from retro-esophageal aortic diverticulum Craniometaphyseal dysplasia Skull congenital deformities Congenital anomaly of head Congenital livedo reticularis Aganglionosis of colon Abnormal attachment of tricuspid chordae tendinae Inherited arthrogryposis Amelogenesis imperfecta, pigmented hypomaturation type Autosomal dominant mutilating keratoderma Spinobulbar atrophy Congenital anomaly of digestive system Congenital fusion of labia Dumbbell ossification of centrum of thoracic vertebra Congenital posterior urethral valves Ambiguous atrioventricular connection Lack of ossification of ilium Congenital hypoplasia of pancreas 22q partial trisomy syndrome Kommerell's diverticulum Reduction deformities of brain Right bronchial isomerism Dandy-Walker syndrome with spina bifida Secondary congenital bronchomalacia Congenital scar Lateral openbite - left Fetal aminopterin syndrome Single outlet ventriculoarterial connection Spina bifida Mosaic XO/XX Congenital anomaly of brain Congenital extrahepatic portal-systemic shunt Major aortopulmonary collateral artery Double outlet right ventricle Congenital cyst of posterior segment of eye Congenital thickening of tarsal bone Longitudinal deficiency of metacarpal bone Pulmonary artery atresia Reduction anomaly of hypothalamus Craniolacunia Punctate palmoplantar keratoderma Brunner's gland adenoma Congenital anomaly of caudal vertebra Incomplete ossification of maxilla Neurofibromatosis syndrome Junctional epidermolysis bullosa gravis of Herlitz Nagele's pelvis Myopathy with type I hypotrophy 7q partial trisomy syndrome Defective development of the cauda equina Congenital disorders of eye and eyelid movements Iniencephaly - closed Septo-optic dysplasia sequence Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Duplication of whole upper limb Congenital anomaly of thorax Congenital blind loop syndrome Ectopic ureterocele Congenital anomaly of pericardium Single ventricular outlet above ventricle of indeterminate morphology Congenital anomaly of digestive tract Trisomy 12 Lamellar ichthyosis Congenital anomaly of esophagus Lack of ossification of fibula Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle Congenital abnormality of nose and nasopharynx XXXY syndrome Dentin dysplasia Congenital hepatic fibrosis Occipital dysplasia Tetralogy of Fallot with absent pulmonary valve Hydromyelocele with hydrocephalus Eyelid vascular anomalies Malattachment of atrial septum with superior aspect of septum primum to left and posterior Straddling mitral valve Hereditary myopathy limited to females Lumbosacral prespondylolisthesis Congenital heart disease in pregnancy Discontinuous rib Ectopic pancreas Congenital anomaly of diaphragm Congenital displacement of gastric mucosa Von Hippel-Lindau syndrome Trisomy 18 - meiotic nondisjunction Congenital miosis Talipes calcaneus Abnormal course of aortic arch and descending aorta Chromosomal alterations of group B Imperfect fusion of skull True generalized microdontia Lack of ossification of exoccipital bone Congenital diverticulum of esophagus Congenital conjunctival cyst Congenital abnormality of uterus, affecting pregnancy Bifid patella Axenfeld-Rieger syndrome Klinefelter's syndrome XXXXY Congenital dilatation of lobar intrahepatic bile duct Hereditary follicular keratoses Supraorbital facial cleft - Tessier cleft 10 Partial agenesis of pericardium Congenital abnormality of lower limb AND/OR pelvic girdle 13p partial trisomy syndrome Progressive junctional epidermolysis bullosa (neurotrophic) Separate hepatic venous and inferior caval venous connections to heart Ring chromosome 22 syndrome Bifid apex of heart Congenital nephrotic syndrome Congenital fenestration of basisphenoid bone Omphalocele with obstruction Congenital familial idiopathic priapism Anomalous cardiac muscle bands Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting anomalously Subaortic infundibulum Triple kidney with triple pelvis Spina bifida aperta of cervical spine Deep vein aplasia 16q partial monosomy syndrome Caudal hemivertebra Saethre-Chotzen syndrome Congenital anomaly of male urogenital tract Congenital abnormal fusion of vomer Ectopic pancreatic tissue in stomach X-linked muscular dystrophy not predominantly limb girdle Congenital uremia Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums Anomaly of chromosome pair 12 Multiple café-au-lait macules due to neurofibromatosis Congenital vitreous opacity Congenital anterior urethral valve Familial benign pemphigus Congenital anomaly of nail Biliary anomalies 16p partial trisomy syndrome Split cord malformation Congenital anomaly of ilium Keratoderma with deafness Non-erythrodermic lamellar ichthyosis Partial trisomy 18 in Edward's syndrome Lack of ossification of metatarsal bone Anterior perimaxillary faciosynostosis Blue rubber bleb nevus Anomalies of cerebrum Congenital cyst of adrenal gland Congenital anomaly of skeletal bone Keratoderma with pachyonychia congenita Eccentric opening of tricuspid aortic valve Congenital anomaly of central nervous system Congenital anomaly of fibula Simple omphalocele D - transposition of the great vessels Congenital undergrowth of whole of lower limb Congenital atrophy of left lobe of liver Olive dysplasia Congenital anomaly of aortic arch AND/OR descending aorta Double inlet to ventricle of indeterminate morphology Severe x-linked myotubular myopathy Congenital hydrocephalus due to toxoplasmosis Poly Y syndrome Congenital skin fragility of animals Incomplete ossification of presphenoid bone Webbed penis Lateral developmental cyst of jaw Obstructed interchordal space of tricuspid chordae tendinae Hypoplasia of cementum Dental arch length loss secondary to dental caries Dextraposition of aorta in Fallot's tetralogy Palatal cyst of the newborn Cystic fibrosis of pancreas Congenital anomaly of nasal sinuses Lack of ossification of arch of thoracic vertebra Complete trisomy 16 syndrome Left atrial appendage - right - juxtaposition Abnormal palmar creases Nodular heterotopia Longitudinal deficiency of upper limb Congenital syringomyelia Patent foramen ovale Renal agenesis and dysgenesis Vesicular appendix of ovary Congenital vascular nevus Rud's syndrome Primordial cyst Incomplete ossification of basioccipital bone Myotubular myopathy Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium Congenital torsion of ovary Undergrowth of whole hand Acrosyndactyly of the fingers Hereditary benign intraepithelial dyskeratosis Epidermolysis simplex superficialis Congenital anomaly of squamosal bone Sex chromosome abnormality - male phenotype Lack of ossification of vomer Congenital horizontal mandibular hypoplasia Congenital anomaly of endocrine gland Laryngeal cleft type III Small intestinal dysmotility 22q partial monosomy syndrome Congenital anomaly of anus Congenital megacolon Congenital nephrotic syndrome with focal glomerulosclerosis Complete trisomy 10 syndrome Color changes during tooth formation Pelvis plana Tilted optic disc Angelman syndrome Amelogenesis imperfecta - hypomaturation - snow capped teeth Beaded hair Congenital pericardial defect Complete trisomy 9 syndrome Infraorbital facial cleft - Tessier cleft 7 Congenital discoid meniscus Persistent Gartner's duct Acephalobrachius Erythrokeratoderma en cocardes Congenital flaccid paralysis Omphalocele with gangrene Congenital anomaly of pituitary gland Antley-Bixler syndrome Keratoderma areata Congenital abnormal fusion of basisphenoid bone Congenital lip pits Dysgenesis of lacrimal punctum Congenital abnormality of cardiac connection Multifocal retinal dysplasia Xeroderma pigmentosum Oto-onycho-peroneal syndrome Congenital anomaly of subcutaneous tissue Congenital anomaly of superior vena cava Congenital thickening of pubis Neurofibromatosis, type 2 Congenital abnormality of atrial septum Macrodontia Sacral spina bifida with hydrocephalus - closed Congenital anomaly of prostate Uterus subseptus Osteopetrosis - intermediate type Benign congenital muscular dystrophy with finger flexion contractures 2p partial trisomy syndrome Duplication of tarsal bone Duplication of external genitalia Congenital hypoplasia of carpal bone Congenital deafness Anomaly of chromosome pair Interrupted aortic arch between left common carotid and brachiocephalic artery Congenital anomaly of ear Incomplete ossification of ulna Congenital abnormality of great veins and coronary sinus Truncal valve dysplasia Congenital abnormal shape of hindpaw phalanx Interfrontal craniofaciosynostosis Trisomy 7 Congenital claw toe Horizontal orbital dystopia Congenital anomaly of alisphenoid bone Congenital anomaly of metatarsal bone Familial multiple café-au-lait macules without neurofibromatosis Criss-cross heart with rightward rotation Congenital bowing of tibia/fibula/femur Duplication of humerus Bayonet hair Left bronchial isomerism Congenital cystic disease of liver X-linked muscular dystrophy with abnormal dystrophin Congenital anomaly of nasal turbinate Abnormality of canalization and retrogressive differentiation Triploidy and polyploidy Congenital corneal opacity with visual deficit Congenital thread-like tail Anomalous pulmonary to systemic collateral vein Familial absence of villi Cyclops hypognathus Rudimentary digit Bipartite ossification of centrum of sacral vertebra Anterior chamber cleavage syndrome Congenital thickening of fibula Left aortic arch and right descending aorta Congenital anomaly of palate Congenital anomaly of membranous labyrinth Displacement of Wharton's duct Dysplastic ovary Diplomyelia Longitudinal deficiency of humerus Epiblepharon Absent left sided atrioventricular connection Bicornuate uterus - baby delivered with postpartum complication Double outlet right ventricle with subpulmonary ventricular septal defect Congenital abnormality of Eustachian tube Lack of ossification of centrum of cervical vertebra Congenital fissure of larynx Junctional epidermolysis bullosa Impervious ureter Female Kallman's syndrome Congenital keratoglobus Hypertrichosis with congenital macrogingivae Fragile X chromosome Paramedian facial cleft - Tessier cleft 1 Dextrotransposition of aorta Congenital anomalies of eyelid, lacrimal system and orbit Solid rudimentary uterus Septoparietal trabeculations Longitudinal deficiency of radius AND ulna Generalized dystrophic epidermolysis bullosa Interrupted aortic arch Congenital vesicoureterorenal reflux Developmental malformation of branchial arch Congenital anomaly of the thymus Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect Congenital junctional epidermolysis bullosa Congenital anomaly of the thyroid gland Cylindrical embryo Duplication with other complex rearrangement Megaloduodenum Situs inversus with levocardia Congenital disease and abnormality of heart, thoracic aorta and pericardium Craniorachischisis Congenital anomaly of sternocleidomastoid muscle Longitudinal deficiency of tibia Thyroglossal duct anomaly Pseudocryptorchism Congenital humeral varus 4q partial trisomy syndrome Sirenoform monster Abnormality of neurogenesis Incomplete ossification of centrum of lumbar vertebra Cheilognathoprosoposchisis Hereditary diffuse palmoplantar keratoderma Baller-Gerold syndrome Congenital anomaly of external female genitalia Congenital brain damage Chimera Multiple anterior segment anomalies Congenital anomaly of lacrimal gland Acral Darier's disease Complete trisomy 22 syndrome Autosomal dominant ichthyosis vulgaris Congenital rectovaginal constriction of Jersey cattle Zebra body myopathy Congenital abnormality of posterior cardiac vein of left ventricle Natal tooth Whole chromosome monosomy - meiotic nondisjunction Congenital anterior staphyloma Abnormal connection of hepatic vein to atrium Acroerythrokeratoderma Hepatic vein to right sided atrium Congenital anomaly of scapula Amelogenesis imperfecta, hypomaturation type Syringomyelia and syringobulbia Congenital hereditary muscular dystrophy Epidermolysis bullosa pruriginosa Dumbbell-shaped cartilaginous centrum of cervical vertebra Congenital urethral posterior valvular stricture Thumb in palm deformity Hypoplasia of radius Congenital anomaly of cerebral artery Gillespie syndrome Lack of ossification of interparietal bone Congenital anomaly of claw Absent atrioventricular connection with straddling valve Complete monosomy 21 syndrome 10p partial trisomy syndrome Hemifacial microsomia Polyploidy syndrome Congenital laryngeal abductor palsy Left sided azygos continuation of inferior caval vein to left superior caval vein Congenital anomaly of upper respiratory system Osteopetrosis - delayed type Mosaic XY/XXY Congenital cyst of spleen Congenital spondylolysis of lumbosacral region Congenital abnormality of vein Solitary aortic trunk with pulmonary atresia Turner's phenotype, karyotype normal Lack of ossification of alisphenoid bone Commissural fusion of pulmonary valve Vascular neurocutaneous syndrome Congenital thickening of tibia Dominant dystrophic epidermolysis bullosa, albopapular type Interrupted right inferior caval vein
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