ODCs

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1 OMIM reference -
1 associated gene
31 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

5 OMIM references -
3 associated genes
13 signs/symptoms

Neurologic Waardenburg-Shah syndrome

Waardenburg syndrome type 2

Citations in the biomedical literature:

Neurologic Waardenburg-Shah syndrome		Waardenburg syndrome type 2
	Synonym(s): - PCWH - Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease - WS4 plus		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic 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: <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 - No MeSH references		External references: 5 OMIM references - 1 MeSH reference: C536463


COMMON SIGNS	- Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Premature greying of hair - Sensorineural deafness / hearing loss - Telecanthus / canthal dystopy

Neurologic Waardenburg-Shah syndrome		Waardenburg syndrome type 2
	Very frequent - Acute abdominal pain / colic - Ataxia / incoordination / trouble of the equilibrium - Constipation - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal obstruction / ileus - Nystagmus - Peripheral neuropathy - Pyramidal syndrome - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Broad nose / nasal bridge - Colonic atresia / stenosis / absence / agenesis / hypoplasia / microcolon - Eyebrows anomalies - High nasal bridge - Late puberty / hypogonadism / hypogenitalism - Thin / hypoplastic ala nasi Occasional - Arthrogryposis - Cardiac rhythm disorder / arrhythmia - Hepatomegaly / liver enlargement (excluding storage disease) - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Salivary gland neoplasm / tumor / carcinoma / cancer - Splenomegaly		Very frequent - Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness Frequent - White forelock / piebaldism Occasional - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies