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Metaphyseal acroscyphodysplasia

ORPHA1240
Synonym(s) Bellini syndrome
Intellectual disability - short stature - wedge shaped epiphyses of knees
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q78.5
OMIM
UMLS
  • C1855243
MeSH
  • C537350
MedDRA -

Summary

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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