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Geroderma osteodysplastica

Disease definition

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

ORPHA:2078

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q82.8
  • OMIM: 231070
  • UMLS: C0432255
  • MeSH: C537799
  • GARD: 413
  • MedDRA: -

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