Ectodermal dysplasia, trichoodontoonychial type

Orpha code: 1818OMIM code: 129510

Definition

Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.

Disease data
Classification

Malformation syndrome

ORPHA code
1818
OMIM code
129510
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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