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Achondroplasia

Disease definition

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

ORPHA:15

  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q77.4
  • OMIM: 100800
  • UMLS: C0001080
  • MeSH: D000130
  • GARD: 8173
  • MedDRA: 10000452

Detailed information

Article for general public

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