Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Orpha code: 1816OMIM code: 246500

Definition

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
Classification

Malformation syndrome

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

No additional description.

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