ODCs

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1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

5 OMIM references -
3 associated genes
13 signs/symptoms

Isolated plagiocephaly

Waardenburg syndrome type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TCF12	(0.52)	SOX10

Citations in the biomedical literature:

Isolated plagiocephaly		Waardenburg syndrome type 2
	Synonym(s): - Non-syndromic unicoronal synostosis - Synostotic plagiocephaly		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: 1-5 / 10 000 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 - No MeSH references		External references: 5 OMIM references - 1 MeSH reference: C536463


COMMON SIGNS	- Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness

Isolated plagiocephaly		Waardenburg syndrome type 2
	Very frequent - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Plagiocephaly Frequent - Abnormal eye movements / oculomotor disorder - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Strabismus / squint Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mid-facial hypoplasia / short / small midface		Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Heterochromia / mixed colouring of iris - Premature greying of hair - Sensorineural deafness / hearing loss 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