| H00446 | |
| H number | H00446 |
| Name | Craniofacial-deafness-hand syndrome |
| Description | Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant or X-linked mutation characterized by a flat facial profile, hypoplastic nose, and a sensorineural hearing loss. A missense mutation in the PAX3 has been detected in patients with the disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | PAX3 [HSA:5077] [KO:K09381] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2H.Y ICD-10: Q87.0 MeSH: C536453 OMIM: 122880 |
| Reference | PMID:14556253 AUTHORS Sommer A, Bartholomew DW TITLE Craniofacial-deafness-hand syndrome revisited. JOURNAL Am J Med Genet A 123A:91-4 (2003) DOI:10.1002/ajmg.a.20501 PMID:8664898 AUTHORS Asher JH Jr, Sommer A, Morell R, Friedman TB TITLE Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. JOURNAL Hum Mutat 7:30-5 (1996) DOI:10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T PMID:6859126 AUTHORS Sommer A, Young-Wee T, Frye T TITLE Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. JOURNAL Am J Med Genet 15:71-7 (1983) DOI:10.1002/ajmg.1320150109 |