loading...| Preferred Name |
Thanatophoric dysplasia type 2 |
|
| Synonyms |
Thanatophoric dwarfism type 2 |
|
| Definitions |
A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_93274 |
|
| alternative_term |
Thanatophoric dwarfism type 2 Thanatophoric dwarfism-cloverleaf skull syndrome Cloverleaf skull-micromelic bone dysplasia syndrome TD2 |
|
| definition |
A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Not applicable Autosomal dominant |
|
| hasDbXref |
MeSH:C536508 ICD-10:Q77.1 ICD-11:LD24.02 OMIM:187601 UMLS:C1300257 OMIM:156830 |
|
| label |
Thanatophoric dysplasia type 2 |
|
| notation |
ORPHA:93274 Clinical subtype |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_93274 |
|
| prefLabel |
Thanatophoric dysplasia type 2 |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |