Exostoses-anetodermia-brachydactyly type E syndrome

Orpha code: 1962OMIM code: 133690

Definicja

An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
1962
Kod OMIM
133690
Kod ICD10
Q87.5
Kod ICD11
-

No additional description.

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