Hirschsprung Disease With Type D Brachydactyly

Reynolds et al. (1983) presented a family in which 2 brothers and 2 of their maternal uncles had Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes. Obligate heterozygotes showed no abnormality. The authors concluded that the pedigree was 'consistent with X-linked recessive inheritance but autosomal dominant with incomplete penetrance in females or multifactorial causation could not be ruled out.'