ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

5 OMIM references -
3 associated genes
13 signs/symptoms

Craniofacial-deafness-hand syndrome

Waardenburg syndrome type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3 PAX3	(0.9) (0.52)	SOX10 MITF

Citations in the biomedical literature:

Craniofacial-deafness-hand syndrome		Waardenburg syndrome type 2
	Synonym(s): - CDHS - Sommer-Young-Wee-Frye syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536453		External references: 5 OMIM references - 1 MeSH reference: C536463


COMMON SIGNS	- Autosomal dominant inheritance - Sensorineural deafness / hearing loss

Craniofacial-deafness-hand syndrome		Waardenburg syndrome type 2
	Very frequent - 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 - Short / small nose - Ulnar deviation of fingers - Wrist / carpal anomalies Frequent - Camptodactyly of some fingers		Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Premature greying of hair Frequent - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Occasional - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies - Telecanthus / canthal dystopy