Overview
Rare disorder with Hirschsprung disease as a major feature (Orphanet code 557866) is a group of uncommon genetic conditions where Hirschsprung disease — a problem with the large intestine — occurs alongside other health issues. Hirschsprung disease happens when nerve cells that normally control bowel movements are missing from part of the large intestine. Without these nerve cells, the affected section of the bowel cannot relax and move stool through properly, causing a blockage. In these rare syndromes, Hirschsprung disease is just one part of a broader picture that may also include differences in how the face looks, intellectual disability, heart defects, or problems with other organs, depending on the specific underlying condition. Because this Orphanet category groups together several distinct rare syndromes that all share Hirschsprung disease as a key feature, the exact combination of symptoms varies from person to person and from syndrome to syndrome. Some children are diagnosed shortly after birth when they fail to pass their first stool, while others may show signs of severe constipation, a swollen belly, or vomiting in early infancy. Treatment almost always involves surgery to remove the section of bowel that lacks nerve cells, which can greatly improve bowel function. Additional treatments depend on the other features present in each individual. Long-term follow-up with a team of specialists is important to manage all aspects of the condition and support the best possible quality of life.
Key symptoms:
Failure to pass a first stool within 48 hours of birthSevere, long-lasting constipationSwollen or bloated bellyVomiting, sometimes with green or yellow fluidPoor feeding and slow weight gain in infancyIntellectual disability or learning difficultiesDistinctive facial features (varies by specific syndrome)Heart defects (in some syndromes)Hearing loss (in some syndromes)Differences in limb or hand development (in some syndromes)Kidney or urinary tract problems (in some syndromes)
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Rare disorder with Hirschsprung disease as a major feature.
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Specialists
View all specialists →No specialists are currently listed for Rare disorder with Hirschsprung disease as a major feature.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare disorder with Hirschsprung disease as a major feature.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific syndrome does my child have, and what genes have been tested or should be tested?,What type of surgery is recommended, and what are the expected outcomes for bowel function afterward?,What are the signs of enterocolitis, and what should I do if I think my child has it?,What other organs or body systems should be checked given my child's specific diagnosis?,What long-term bowel management plan do you recommend after surgery?,Should our family have genetic counseling, and what is the chance of this condition occurring in future children?,What developmental or educational support services should we connect with early on?
Common questions about Rare disorder with Hirschsprung disease as a major feature
What is Rare disorder with Hirschsprung disease as a major feature?
Rare disorder with Hirschsprung disease as a major feature (Orphanet code 557866) is a group of uncommon genetic conditions where Hirschsprung disease — a problem with the large intestine — occurs alongside other health issues. Hirschsprung disease happens when nerve cells that normally control bowel movements are missing from part of the large intestine. Without these nerve cells, the affected section of the bowel cannot relax and move stool through properly, causing a blockage. In these rare syndromes, Hirschsprung disease is just one part of a broader picture that may also include differenc
At what age does Rare disorder with Hirschsprung disease as a major feature typically begin?
Typical onset of Rare disorder with Hirschsprung disease as a major feature is neonatal. Age of onset can vary across affected individuals.