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Geleophysic dysplasia

Disease definition

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

ORPHA:2623

  • Synonym(s):
    • Geleophysic dwarfism
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.1
  • OMIM: 231050  614185
  • UMLS: C3489726
  • MeSH: C537677
  • GARD: 2449
  • MedDRA: 10063361

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