ODCs

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Waardenburg syndrome type 2

5 OMIM references -
3 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

X-linked dominant chondrodysplasia punctata

1 OMIM reference -
1 associated gene
28 signs/symptoms

Waardenburg syndrome type 2

X-linked dominant chondrodysplasia punctata

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF	(0.63)	EBP

Citations in the biomedical literature:

Waardenburg syndrome type 2		X-linked dominant chondrodysplasia punctata
	Synonym(s): (no synonyms)		Synonym(s): - CDPX2 - CDPXD - CPXD - Chondrodystrophia calcificans congenita - Conradi-HÃ¼nermann-Happle syndrome - X-linked chondrodysplasia punctata type 2

	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 (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

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

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked dominant

	External references: 5 OMIM references - 1 MeSH reference: C536463		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Ptosis - Sensorineural deafness / hearing loss

Waardenburg syndrome type 2		X-linked dominant chondrodysplasia punctata
	Very frequent - Autosomal dominant inheritance - 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 - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Renal / kidney anomalies - Telecanthus / canthal dystopy		Very frequent - Decreased body hair / axillar / pubic hairlessness - Dysplastic / thick / grooved fingernails - Epicanthic folds - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Ichthyosis / ichthyosiform dermatitis - Joint / articular deformation - Kyphosis - Short stature / dwarfism / nanism - Upper limb asymmetry / hemiatrophy / hemihypertrophy Frequent - Optic nerve anomaly / optic atrophy / anomaly of the papilla Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal vertebral size / shape - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Brittle hair / distrix / trichorrhexis - Cataract / lens opacification - Clinodactyly of fifth finger - Epiphyseal anomaly - Flat cheek bones / malar hypoplasia - Flat face - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Microcornea - Polydactyly of toes - Rhizomelic micromelia - Skin hypoplasia / aplasia / atrophy - Talipes-varus / metatarsal varus