Metaphyseal acroscyphodysplasia

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, Bellini Chiumello Rimoldi syndrome, cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly, wedge-Shaped epiphyses of knees, wedge-shaped epiphyses of knees, wedge-shaped epiphyses of the knees with intellectual disability and short stature

0 clinical trials for this condition and its sub-types, 0 tagged with Metaphyseal acroscyphodysplasia itself.