Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 8 of 8 for Hirschsprung disease 3
  1. Hirschsprung disease 
    ... Hirschsprung disease, susceptibility to, 2 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 3 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 4 ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  2. Congenital central hypoventilation syndrome 
    ... A, Cutrera R. Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease. Ital J Pediatr. 2019 Apr 18;45(1): ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  3. Mowat-Wilson syndrome 
    ... Rauch A. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet. 2002 Mar 15;108(3):177-81. Citation on PubMed Zweier C, Thiel ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  4. Emanuel syndrome 
    ... the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's ... 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11; ...
    https://medlineplus.gov/genetics/condition/emanuel-syndrome - Genetics
  5. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  6. Waardenburg syndrome 
    ... in pigmentation. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  7. Cartilage-hair hypoplasia 
    ... other grains (celiac disease). Affected individuals may have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal ... Li Y. RNase MRP RNA and human genetic diseases. Cell Res. 2007 Mar;17(3):219-26. doi: 10.1038/sj.cr.7310120. ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  8. Mabry syndrome 
    ... the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics