exostoses-anetodermia-brachydactyly type E syndrome
Findings
No curated finding names exostoses-anetodermia-brachydactyly type E syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Exostoses-anetodermia-brachydactyly type E syndrome is 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.
Definition from the Mondo Disease Ontology (MONDO:0007584), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Dermal atrophyHPOHP:0004334
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- Multiple exostosesHPOHP:0002762
- Very frequent (80% to 99% of cases)
- Type E brachydactylyHPOHP:0005863
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of