Thiemann disease, familial form
Findings
No curated finding names Thiemann disease, familial form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.
Definition from the Mondo Disease Ontology (MONDO:0008142), 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.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Avascular necrosisHPOHP:0010885
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: Thiemann disease, familial form
- Also called
- aseptic necrosis of phalangeal epiphysesosteochondritis of phalangeal epiphysesOsteochondrosis of phalangeal epiphyses