This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two mater
syndrome de maladie de Hirschsprung-brachydactylie type D
SNOMEDCT-BE (type D brachydactyly). It has been described in four males from one family (two brothers and two mater / 721222007
SNOMEDCT-BE (disorder) / 721222007