Mortality in achondroplasia

J. T. Hecht, C. A. Francomano, W. A. Horton, J. F. Annegers

Research output: Contribution to journalArticlepeer-review

132 Scopus citations


Standardized mortality ratios (SMRs) were determined for a historical cohort of achondroplastic individuals identified through the Medical Genetics Clinics of the University of Texas Health Science Center at Houston and Johns Hopkins Hospital, Baltimore. Mortality was increased at all ages, with an overall SMR of 2.27 (95% confidence interval 1.7-3.0). Sudden death accounted for the excess deaths in those < 4 years of age, and brain-stem compression was identified as the cause in half of these deaths. Central nervous system and respiratory causes were not significantly increased but accounted for half of the deaths in those 5-24 years of age. SMRs were not significantly increased for those > 34 years of age. However, deaths attributed to cardiovascular causes were increased in the 25-54-year-old age group, accounting for 10 of 17 deaths. The overall cardiovascular SMR was 5.2 (95% confidence interval 2.5-9.6). Within this group, severe disability resulting from marked spinal canal stenosis was present in a majority of individuals and may have been a contributing factor in these deaths. This study suggests that the bony abnormalities associated with achondroplasia-i.e., foramen magnum and spinal canal stenosis-may have a significant effect on mortality at all ages but particularly in children. Efforts to minimize these complications are recommended.

Original languageEnglish (US)
Pages (from-to)454-464
Number of pages11
JournalAmerican journal of human genetics
Issue number3
StatePublished - 1987
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Mortality in achondroplasia'. Together they form a unique fingerprint.

Cite this