talo-patello-scaphoid osteolysis
Findings
No curated finding names talo-patello-scaphoid osteolysis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.
Definition from the Mondo Disease Ontology (MONDO:0012330), 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.
- Enlarged jointsHPOHP:0003037
- Very frequent (80% to 99% of cases)
- Osteolysis of patellaeHPOHP:0006378
- Very frequent (80% to 99% of cases)
- Osteolysis of scaphoidsHPOHP:0006202
- Very frequent (80% to 99% of cases)
- Osteolysis of talusHPOHP:0008095
- Very frequent (80% to 99% of cases)
- Short 4th metacarpalHPOHP:0010044
- Very frequent (80% to 99% of cases)
- SynovitisHPOHP:0100769
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: talo-patello-scaphoid osteolysis
- Also called
- singh-Williams-McAlister syndrome