metaphyseal acroscyphodysplasia
Findings
No curated finding names metaphyseal acroscyphodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.
Definition from the Mondo Disease Ontology (MONDO:0009592), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
2 names
Resolves to: metaphyseal acroscyphodysplasia
- Also called
- Bellini syndromeintellectual disability-short stature-wedge-shaped epiphyses of knees syndrome