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1.

Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

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 (HED/EDA) 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). [from OMIM]

MedGen UID:
934583
Concept ID:
C4310616
Disease or Syndrome
2.

Ectodermal dysplasia with natal teeth, Turnpenny type

A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant. [from SNOMEDCT_US]

MedGen UID:
371331
Concept ID:
C1832444
Disease or Syndrome
3.

Hypoplastic sweat glands

Underdevelopment of the sweat glands. [from HPO]

MedGen UID:
321962
Concept ID:
C1832455
Finding
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