Abstract
BACKGROUND: Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired immunity. Impaired immunity may result in increased mortality. AIMS: To follow a cohort of 120 CHH patients for mortality from 1971 to 1995. METHODS: The overall and cause specific disease mortality rates in patients with CHH, and the disease mortality rate in 194 parents and 158 non-affected sibs were compared with the national rates. RESULTS: During follow up seven disease related deaths were observed versus 0.8 expected (standardised mortality ratio 9.3, 95% confidence interval 3.7 to 19). In most cases, the deaths were confined to the younger age groups and associated with defective immunity. The mortality of the parents and the non-affected sibs was similar to that in the general population. CONCLUSION: The study confirms increased mortality in patients with CHH attributable to defective immunity, especially in children.