Multicenter study of mortality in achondroplasia

S. Shahrukh Hashmi, Candace Gamble, Julie E Hoover Fong, Adekemi Yewande Alade, Richard M. Pauli, Peggy Modaff, Meagan Carney, Cassondra Brown, Michael B. Bober, Jacqueline T. Hecht

Research output: Contribution to journalArticle


Sudden death and higher mortality are recognized in achondroplasia, with acute brainstem compression, a common cause of mortality in children <4 years and cardiovascular deaths being more prevalent in adults. Although, changes in clinical management have improved survival, mortality is still higher than in the general population. The aim of this multicenter clinic-based study was to assess the rate and causes of mortality in patients seen in clinic since 1986. Information was ascertained for achondroplasia patients clinically assessed in four skeletal dysplasia clinics. Data was sent to the National Death Index to identify vital status and cause of death. Standardized mortality rates (SMR) were calculated based on U.S. populations from 1975, 1995, and 2000. Eight hundred fifty-five patients were identified, contributing 12,117 person-years and a total of 12 deaths. One case died in infancy. In the 1–4 year age group, which had the highest age-adjusted SMR, three out of five deaths were because of cerebrovascular/cardiovascular events. Half the deaths in ages 5 through 24 were because of accidental events, including motor vehicle accidents. Decreased mortality in children with achondroplasia was noted, particularly in younger age groups. This improvement in childhood survival is outpaced by improved survival in the general population. Causes of death in these patients have shifted over the last 30 years, with fewer sudden death and deaths because of pneumonia or hydrocephalus countered by more cardiovascular or cerebrovascular and accidental deaths. Clinicians should be aware of the apparent increased risk of vehicular accidents and counsel patients accordingly.

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
Publication statusAccepted/In press - Jan 1 2018



  • achondroplasia
  • dwarfism
  • mortality
  • motor vehicular accident
  • standardized mortality rate

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Hashmi, S. S., Gamble, C., Hoover Fong, J. E., Alade, A. Y., Pauli, R. M., Modaff, P., ... Hecht, J. T. (Accepted/In press). Multicenter study of mortality in achondroplasia. American Journal of Medical Genetics, Part A.