loading...| Preferred Name | McKusick-Kaufman syndrome | |
| Synonyms |
Hydrometrocolpos-postaxial polydactyly syndrome Kaufman-Mckusick syndrome |
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| Definitions |
A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2473 |
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| alternative_term |
Hydrometrocolpos-postaxial polydactyly syndrome Kaufman-Mckusick syndrome |
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| definition |
A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2473 |
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| has_age_of_onset |
Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C0948368 MeSH:C538159 OMIM:236700 ICD-10:Q87.8 MedDRA:10052312 ICD-11:9B70 |
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| label |
McKusick-Kaufman syndrome |
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| notation |
ORPHA:2473 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_156162 http://www.orpha.net/ORDO/Orphanet_102285 |
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| prefixIRI |
ORDO:Orphanet_2473 |
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| prefLabel |
McKusick-Kaufman syndrome |
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| present_in |
Specific population AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_cases/families_value : 90.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_156162 http://www.orpha.net/ORDO/Orphanet_102285 |
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| subClassOf |