Cartilage-hair hypoplasia is a chondrodysplasia with a high incidence of Hi
rschsprung disease. This study suggests that Hirschsprung disease is associ
ated especially with severe cartilage-hair hypoplasia: the patients with Hi
rschsprung disease had severe growth failure and a higher incidence of alop
ecia, infections, malignancies, and childhood anemia than the patients with
cartilage-hair hypoplasia who did not have Hirschsprung disease.