Ectodermal dysplasia 8, hair/tooth/nail type(ECTD8)

MedGen UID:: 764338
•Concept ID:: C3551424
•: Disease or Syndrome

Synonym:	Fried's tooth and nail syndrome

Monarch Initiative:	MONDO:0011219
OMIM®:	602401
Orphanet:	ORPHA99672

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-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails. [from OMIM]

Clinical features

From HPO

Macrodontia

MedGen UID:: 82729
•Concept ID:: C0266036
•: Finding

Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.

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Agenesis of permanent teeth

MedGen UID:: 224851
•Concept ID:: C1290511
•: Congenital Abnormality

A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.

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Irregular dentition

MedGen UID:: 347297
•Concept ID:: C1856765
•: Finding

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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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Aplasia/Hypoplasia of the eyebrow

MedGen UID:: 892938
•Concept ID:: C4021956
•: Finding

Absence or underdevelopment of the eyebrow.

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Hypohidrosis

MedGen UID:: 43796
•Concept ID:: C0020620
•: Disease or Syndrome

Abnormally diminished capacity to sweat.

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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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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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Sparse or absent eyelashes