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GENATLAS PHENOTYPE
last update : 26/09/2005
Symbol CDHS
Location 2q36.1
Name craniofacial-deafness-hand syndrome
Corresponding gene PAX3
Main clinical features
  • flat facial profile, ocular hypertelorism, hypoplastic nose with slit-like nares
  • sensorineural hearing loss.
  • X-ray findings include a small maxilla, absent or small nasal bones, and ulnar deviation of the hands
    • Genetic determination
    Function/system disorder congenital malformation
    ear
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     N47K
    Remark(s) allelic disorder to Waardenburg syndrome type 1 (WS1) and type 3 (WS3)