Hirschsprug's Disease is a congenital condition in which nerve cells (ganglia) are missing from segments of the colon. Without these nerves, the bowel can't coordinate muscle contractions to move stool along, leading to blockage and severe constipation. It typically presents in newborns but milder cases may not be diagnosed until later in childhood or adulthood. (ICD-10 code: Q43.1)
Symptoms vary depending on age and the length of bowel involved. Common signs include:
Hirschsprug's Disease is primarily driven by genetic factors. Known contributors include:
With a focus on patient-centered care and comprehensive digestive health solutions, GastroDoxs offers expert diagnostics and effective treatment for Hirschsprung's Disease and related gastrointestinal conditions. Our Cypress team uses advanced testing-such as contrast enemas, rectal manometry, and tissue biopsies-and tailors surgical and non-surgical therapies to your needs. We guide you and your family through every step of diagnosis, treatment, and recovery with compassionate, personalized care. Book your appointment today at our Cypress clinic to start your journey toward long-term relief and improved quality of life.
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Dr. Bharat Pothuri is a Board-Certified Gastroenterologist and Hepatologist. With extensive experience in digestive health, he specializes in advanced endoscopic procedures, chronic GI disorder management, and preventive care. Dr. Pothuri is dedicated to providing expert, patient-focused insights to help improve gut health and overall well-being.
Hirschsprung's Disease is a congenital condition where nerve cells are missing from segments of the colon, preventing normal bowel movements and causing chronic constipation, pain, and intestinal blockage.
Yes. Many cases are linked to genetic mutations and can run in families. Genetic testing can sometimes help confirm a hereditary cause.
Severity varies. Some infants show urgent symptoms soon after birth, while others experience milder signs and may not be diagnosed until later.
Hirschsprung's Disease affects about one in every five thousand newborns globally.
There is no difference; "syndrome" simply refers to the collection of symptoms associated with the disease.
Diagnosis often involves a rectal exam, imaging with a contrast enema, rectal manometry, and a biopsy to confirm the absence of nerve cells.
The primary treatment is surgery-most commonly a pull-through procedure to remove the non-functional bowel segment-followed by diet adjustments and bowel management.
Yes. Although rare, milder forms of Hirschsprung's Disease can go undetected until adulthood, when chronic constipation prompts evaluation.
If your baby hasn't passed stool within 48 hours of birth, shows a swollen or hard belly, has green vomiting, or struggles with feeding and weight gain, seek specialist care right away.
Post-operative care includes regular gastroenterologist visits, a balanced diet, possible use of stool softeners, and monitoring for bowel-movement changes to prevent complications.
