Orphanet: Achondrogenesis type 1A

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Achondrogenesis type 1A

Disease definition

A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


Classification level: Subtype of disorder
  • Synonym(s):
    • Achondrogenesis, Houston-Harris type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.0
  • OMIM: 200600
  • UMLS: C0265273
  • MeSH: C536015
  • GARD: 459
  • MedDRA: -
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