Ectodermal dysplasia, trichoodontoonychial type

Orpha code: 1818OMIM code: 129510

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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