ODCs

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1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
3 associated genes
18 signs/symptoms

Brachydactyly type C

Autosomal dominant hypohidrotic ectodermal dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.72)	TRAF6

Citations in the biomedical literature:

Brachydactyly type C		Autosomal dominant hypohidrotic ectodermal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - AD-HED - Autosomal dominant anhidrotic ectodermal dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown 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: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537093		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Brachydactyly type C		Autosomal dominant hypohidrotic ectodermal dysplasia
	Very frequent - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Ulnar deviation of fingers Frequent - Cone epiphyses / epiphysis - Short foot / brachydactyly of toes - Thin / hypoplastic / hyperconvex fingernails Occasional - Clinodactyly of fifth finger - Short stature / dwarfism / nanism - Symphalangy of fingers - Talipes-valgus		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Decreased body hair / axillar / pubic hairlessness - Dry / squaly skin / exfoliation - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Premature lost of decidious teeth - Thin skin - Tooth shape anomaly Frequent - Abnormal fingernails - Alveolysis / paraodontitis Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Eczema - Flattened nose - Frontal bossing / prominent forehead - Malignant hyperthermia - Thick lips