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Hirschsprung's disease-type D brachydactyly syndrome is a very rare genetic disorder which is characterized by the partial absence of nerves in the intestines and hypoplasia of the thumb's distal phalange. It was first discovered in 1983 by Reynolds et al., when he described two brothers and two maternal uncles with Hirschsprung's disease and brachydactyly type D. The inheritance pattern was hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance.
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