/metaphyseal acroscyphodysplasia

metaphyseal acroscyphodysplasia

Rare Disease

MONDO:0009592

Also Known As

Bellini syndromeintellectual disability-short stature-wedge-shaped epiphyses of knees syndromemetaphyseal acroscyphodysplasiaBellini Chiumello Rimoldi syndromecupped metaphyses and cone-Shaped epiphyses of knees with brachydactylywedge-Shaped epiphyses of kneeswedge-shaped epiphyses of kneeswedge-shaped epiphyses of the knees with intellectual disability and short staturewedge-shaped epiphyses of the knees with mental retardation and short stature

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.