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.
MONDO:0018230
skeletal dysplasia
is_a
Bellini Chiumello Rimoldi syndrome
related
Bellini syndrome
exact
intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome
exact
metaphyseal acroscyphodysplasia
exact
wedge-shaped epiphyses of knees
related
wedge-shaped epiphyses of the knees with intellectual disability and short stature
related
wedge-shaped epiphyses of the knees with mental retardation and short stature
related