Ectodermal dysplasia 7, hair/nail type(ECTD7)

MedGen UID:: 767031
•Concept ID:: C3554117
•: Disease or Syndrome

Synonym:	ECTD7

Gene (location): Gene(s) directly associated with this condition or phenotype.	KRT74 (12q13.13)

Monarch Initiative:	MONDO:0013975
OMIM®:	614929

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

Abnormality of the dentition

MedGen UID:: 78084
•Concept ID:: C0262444
•: Finding

Any abnormality of the teeth.

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Sparse eyebrow

MedGen UID:: 371332
•Concept ID:: C1832446
•: Finding

Decreased density/number of eyebrow hairs.

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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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Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

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Onycholysis

MedGen UID:: 39324
•Concept ID:: C0085661
•: Disease or Syndrome

Detachment of the nail from the nail bed.

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Abnormal sweat gland morphology

MedGen UID:: 892310
•Concept ID:: C0262643
•: Anatomical Abnormality

Any structural abnormality of the sweat gland.

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Brittle hair

MedGen UID:: 120480
•Concept ID:: C0263490
•: Disease or Syndrome

Fragile, easily breakable hair, i.e., with reduced tensile strength.

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Dystrophic toenail

MedGen UID:: 318813
•Concept ID:: C1833225
•: Finding

Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.

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Sparse eyelashes

MedGen UID:: 375151
•Concept ID:: C1843300
•: Finding

Decreased density/number of eyelashes.

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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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Abnormality of the skin