Exostoses-anetodermia-brachydactyly type E syndrome
ORPHA:1962· ICD-10 Q87.5
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Neonatal