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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 eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Absent toenail
MedGen UID:
336719
Concept ID:
C1844555
Congenital Abnormality
Congenital absence of the toenail.
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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