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Metaphyseal acroscyphodysplasia

Synonym(s) Bellini syndrome
Intellectual disability-short stature-wedge shaped epiphyses of knees syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q78.5
  • C1855243
  • C537350
MedDRA -


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 embeeded 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.

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