- Multiple exostoses (HP:0002762): Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1962)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1962)
- Type E brachydactyly (HP:0005863): In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1962)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1962)
- Macule (HP:0012733): A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1962)
These phenotypes are associated with the disease Exostoses-anetodermia-brachydactyly type E syndrome (ORPHA:1962).