Recurrence Risk for Sibs of Children With "Sporadic" Achondroplasia

Am J Med Genet. 2000 Jan 31;90(3):250-1.


Because of gonadal mosaicism, the risk of recurrence of achondroplasia in the sibs of achondroplastic children with unaffected parents is presumably higher than twice the mutation rate, but it has not been measured. Data from 11 Canadian genetics centers provide an estimate of 1/443, or 0.02%.

MeSH terms

  • Child
  • Humans
  • Mosaicism
  • Nuclear Family*
  • Osteochondrodysplasias / epidemiology*
  • Osteochondrodysplasias / genetics
  • Recurrence
  • Risk Factors