Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Orpha code: 1816OMIM code: 246500

Definicja

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Berlin syndrome
Zespół Berlin
Dysplazja ektodermalna typu Berlin
Ectodermal dysplasia, Berlin type
Kod ORPHA
1816
Kod OMIM
246500
Kod ICD10
Q82.4
Kod ICD11
-

No additional description.

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