Ectodermal dysplasia 5, hair/nail type(ECTD5)

MedGen UID:: 767022
•Concept ID:: C3554108
•: Disease or Syndrome

Synonym:	ECTD5

Monarch Initiative:	MONDO:0013973
OMIM®:	614927

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. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. [from OMIM]

Clinical features

From HPO

Sparse scalp hair

MedGen UID:: 346499
•Concept ID:: C1857042
•: Finding

Decreased number of hairs per unit area of skin of the scalp.

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Absent toenail

MedGen UID:: 336719
•Concept ID:: C1844555
•: Congenital Abnormality

Congenital absence of the toenail.

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Dystrophic fingernails

MedGen UID:: 764340
•Concept ID:: C3551426
•: Finding

The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.

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Hair-nail ectodermal dysplasia