Metaphyseal acroscyphodysplasia
Metaphyseal acroscyphodysplasia
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.
Also known as Bellini syndrome, intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome, metaphyseal acroscyphodysplasia — per MONDO