ODCs

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1 OMIM reference -
2 associated genes
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

Piebaldism

Waardenburg syndrome type 2

KIT	(UniProt - OMIM)		MITF	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)		SNAI2	(UniProt - OMIM)
			SOX10	(UniProt - OMIM)


COMMON GENES	SNAI2

Citations in the biomedical literature:

Piebaldism		Waardenburg syndrome type 2

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin 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): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal 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: D016116		External references: 5 OMIM references - 1 MeSH reference: C536463


COMMON SIGNS	- Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - White forelock / piebaldism

Piebaldism		Waardenburg syndrome type 2
	Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Irregular / in bands / reticular skin hyperpigmentation - Macules Occasional - Anomalies of mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Broad nasal root - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Microcephaly - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Synophris / synophrys		Very frequent - Premature greying of hair - Sensorineural deafness / hearing loss Occasional - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies - Telecanthus / canthal dystopy