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Metaphyseal acroscyphodysplasia

Disease 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.

ORPHA:1240

Classification level: Disorder
  • 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
  • ICD-10: Q78.5
  • OMIM: 250215
  • UMLS: C1855243
  • MeSH: C537350
  • GARD: 3519
  • MedDRA: -

Detailed information

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