Geroderma osteodysplastica

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Disease Overview

Geroderma osteodysplastica is a rare disease characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Bone problems may include severe osteoporosis leading to frequent fractures, underdeveloped cheekbones and jaw (malar and mandibular hypoplasia) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene. Inheritance is autosomal recessive.[7527]


Synonyms

  • GO
  • Walt Disney dwarfism
  • Gerodermia osteodysplastica
  • Geroderma osteodysplasticum

For more information, visit GARD.

National Organization for Rare Disorders