ODCs

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1 OMIM reference -
1 associated gene
31 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 12

3 OMIM references -
3 associated genes
22 signs/symptoms

Neurologic Waardenburg-Shah syndrome

Waardenburg-Shah syndrome

Citations in the biomedical literature:

Neurologic Waardenburg-Shah syndrome		Waardenburg-Shah syndrome
	Synonym(s): - PCWH - Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease - WS4 plus		Synonym(s): - Shah-Waardenburg syndrome - WS4 - Waardenburg syndrome type 4 - Waardenburg-Hirschsprung syndrome

	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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		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		Epidemiological data: Class of prevalence: <1 / 1 000 000 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: 3 OMIM references - No MeSH references


COMMON SIGNS	- Acute abdominal pain / colic - Anomalies of eyelids, eyelashes and lacrimal system - Broad nose / nasal bridge - Constipation - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Eyebrows anomalies - High nasal bridge - Intestinal obstruction / ileus - Premature greying of hair - Telecanthus / canthal dystopy - Thin / hypoplastic ala nasi

Neurologic Waardenburg-Shah syndrome		Waardenburg-Shah syndrome
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Heterochromia / mixed colouring of iris - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular / patchy skin hypopigmentation - Nystagmus - Peripheral neuropathy - Pyramidal syndrome - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss Frequent - Colonic atresia / stenosis / absence / agenesis / hypoplasia / microcolon - Late puberty / hypogonadism / hypogenitalism 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 - Anomalies of eyes and vision - Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Intestinal / colonic anomaly - Macular pigmentary anomaly / cherry-red spot - White forelock / piebaldism Frequent - Anomalies of nose and olfaction - Synophris / synophrys Occasional - Autosomal recessive inheritance - Retinitis pigmentosa / retinal pigmentary changes