Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene

Histopathological demonstration of absence of enteric ganglion cells in the distal rectum. Absence of ganglion cells in the submucosa of 50-75 sections examined from a biopsy establishes the diagnosis of HSCR and can be confirmed by genetic testing. If monogenic nonsyndromic HSCR is likely, molecular genetic testing of RET should be considered. If a RET mutation is not identified, molecular genetic testing of EDNRB, GDNF, EDN3, ECE1 and NRTN may be considered. If syndromic HSCR is suspected, genetic testing should be considered accordingly.

Individuals with the following symptoms may also consider genetic testing for HSCR (Kessmann 2006):

Infants with bilious vomiting, enterocolitis-associated diarrhea, failure to pass meconium in the first 24 hours of life, infrequent, explosive bowel movements; difficult bowel movements, jaundice, poor feeding, progressive abdominal distention and tight anal sphincter with an empty rectum. Older children with absence of soiling or overflow incontinence, chronic progressive constipation, usually with onset in infancy, failure to thrive, fecal impaction, malnutrition and progressive abdominal distention.