Liver and digestive diseases
A bowel disease present from birth. There are no nerve cells in the last part of the large bowel. This is why stool cannot move forward; severe constipation or blockage occurs.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Liver and digestive diseases” group.
The bowel pushes stool forward with muscle contractions. These muscles are controlled by nerve cells in the bowel wall. In this disease, while the baby is in the womb, these nerves do not reach the last part of the bowel. The part without nerves cannot push stool along; stool builds up and a blockage occurs.
Symptoms usually begin soon after birth. Mild cases may be noticed later in childhood.
The doctor examines the belly and, if needed, checks the back passage with a finger. An abdominal X-ray can show the blockage. The diagnosis is confirmed with a small tissue sample (biopsy) taken from the back passage; the sample is checked for nerve cells.
The main treatment is surgery. The part of the bowel without nerves is removed, and healthy bowel is joined to the anus. Sometimes the operation is done in two stages, with a temporary opening in the belly (stoma) in between. Bowel washouts and fluids through a vein may be needed before surgery. In most children the bowel works well after surgery. Some children may continue to have constipation or soiling; regular follow-up and diet support help. The doctor who follows the disease decides which treatment is suitable.
The cause of the disease is not fully known; several genes play a role. About one in five cases occur in more than one person in the same family. In a family that already has a child with this disease, the risk for a new baby is slightly higher. Not everyone who carries the gene becomes ill. Sometimes it can be part of another genetic condition. Genetic counselling helps the family understand their own risk.
Source: MedlinePlus Genetics: Hirschsprung disease · NHS: Hirschsprung's disease · MedlinePlus: Hirschsprung disease
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
At a pediatric surgery center in Ankara, 91 patients with Hirschsprung disease were reviewed.
TürkiyeResearch and clinical trials
In Konya, 72 Hirschsprung patients operated on between 2011–2023 were studied.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
Questions you can ask your doctor
ClinicalTrials.gov lists 9 active interventional studies for this disease. 4 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)Not yet recruitingNCT03660176
Non-drug study (device, procedure, care, etc.)RecruitingNCT06072976
Non-drug study (device, procedure, care, etc.)RecruitingNCT07519915
Non-drug study (device, procedure, care, etc.)RecruitingNCT06911749
Non-drug study (device, procedure, care, etc.)RecruitingNCT06650683
See all studies on ClinicalTrials.gov · Joining clinical trials
GlobalResearch and clinical trials
Fatty deposits in the skin were studied in children with Alagille syndrome.
TürkiyeDiagnosis and screening
At İnönü University, the records of 70 babies with jaundice were reviewed.
TürkiyeDiagnosis and screening
Two pediatric gastroenterology centers in Ankara studied prolonged newborn jaundice.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:388 · ICD-11 LB16.1
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.