Exostoses-anetodermia-brachydactyly type E syndrome

Definition

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

Classification

Malformation syndrome

ORPHA code

1962

OMIM code

133690

ICD10 code

Q87.5

ICD11 code

*Soruce