dermochondrocorneal dystrophy
Findings
No curated finding names dermochondrocorneal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009094), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormality of the handHPOHP:0001155
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- Corneal dystrophyHPOHP:0001131
- Very frequent (80% to 99% of cases)
- Large handsHPOHP:0001176
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: dermochondrocorneal dystrophy
- Also called
- FranC'ois syndromeFrançois syndrome