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Craniofacial-deafness-hand syndrome
1 OMIM reference -
1 associated gene
20 connected diseases
17 signs/symptoms
Disease Type of connection
Alveolar rhabdomyosarcoma
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Waardenburg syndrome type 2
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome
Isolated Klippel-Feil syndrome
Hypodontia - dysplasia of nails
Oligodontia
Spinocerebellar ataxia type 17
X-linked dystonia-parkinsonism
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Synonym(s):
- CDHS
- Sommer-Young-Wee-Frye syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536453
Gene symbol UniProt reference OMIM reference
PAX3 P23760606597
Very frequent
- Autosomal dominant inheritance
- Blepharophimosis / short palpebral fissures
- Defect / anomaly of lacrimal system
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat face
- Flattened nose
- Hypertelorism
- Microstomia / little mouth
- Narrow face
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Sensorineural deafness / hearing loss
- Short / small nose
- Ulnar deviation of fingers
- Wrist / carpal anomalies

Frequent
- Camptodactyly of some fingers