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Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant(ECTD11A)

MedGen UID:
472745
Concept ID:
CN160753
Disease or Syndrome
Synonyms: ECTD11A; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
 
Gene (location): EDARADD (1q42.3-43)
OMIM®: 614940

Definition

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100. [from OMIM]

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