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Acromesomelic dysplasia, Grebe type

Disease definition

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

ORPHA:2098

Classification level: Disorder
  • Synonym(s):
    • Chondrodysplasia, Grebe type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 200700
  • UMLS: C0265260
  • MeSH: -
  • GARD: 1300
  • MedDRA: -
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