familial anetoderma
MONDO:0016445Mondo
Findings
No curated finding names familial anetoderma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.
Definition from the Mondo Disease Ontology (MONDO:0016445), read 2026-09-29. CC BY 4.0.
Features
6 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.
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Frequent (30% to 79% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Frequent (30% to 79% of cases)
- High, narrow palateHPOHP:0002705
- Frequent (30% to 79% of cases)
- Irregular dentitionHPOHP:0040079
- Frequent (30% to 79% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: familial anetoderma
- Also called
- hereditary anetodermahereditary macular atrophy