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Achondrogenesis

Orpha number ORPHA932
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q77.0
OMIM -
UMLS
  • C0001079
MeSH -
MedDRA
  • 10066122
SNOMED CT
  • 2391001

Summary

Achondrogenesis is a lethal disorder characterized by deficient endochondral ossification. Clinical signs include dwarfism with short limbs, short trunk, prominent abdomen, macrocephaly, and anasarca. Radiological features are characteristic, with virtual absence of ossification of the vertebral column, sacrum and pelvic bones. There are 2 types of achondrogenesis that can be differentiated clinically, radiologically and histologically. Type I achondrogenesis follows an autosomal recessive pattern of inheritance, with the subtype IB caused by mutations in the diastrophic dysplasia sulfate transporter DTDST gene, and type II achondrogenesis caused by de novo dominant mutations in the collagen type II-1 COL2A1 gene.

Expert reviewer(s)

  • Pr Valérie CORMIER-DAIRE
  • Pr Laurence FAIVRE-OLIVIER
Last update: May 2003

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