KEGG   DISEASE: Craniofacial-deafness-hand syndrome
Entry
H00446                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H00446  Craniofacial-deafness-hand syndrome
Gene
PAX3 [HSA:5077] [KO:K09381]
Other DBs
ICD-11: LD2H.Y
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
Reference
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
Reference
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

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   OMIM (1)   
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