Overview
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome (also sometimes referred to by its Orphanet code ORPHA:2153) is a very rare condition that combines three main problems: a bowel disorder called Hirschsprung disease, underdeveloped or abnormally shaped fingernails and toenails (nail hypoplasia), and distinctive facial features (dysmorphism). Hirschsprung disease happens when the nerve cells that normally control bowel movements are missing from part of the large intestine. This causes the bowel to become blocked, making it very hard to pass stool normally. Babies and children with this syndrome may have serious constipation, a swollen belly, and difficulty feeding from birth. The nail changes can range from small, thin, or poorly formed nails to nails that look quite different from usual. The facial features vary between individuals but may include differences in the shape of the eyes, nose, or ears. Treatment focuses on managing each problem separately. Surgery is usually needed to remove the part of the bowel that lacks nerve cells. Nail and facial differences are generally managed with supportive care. Because this syndrome is so rare, treatment is highly individualized and guided by a team of specialists.
Also known as:
Key symptoms:
Severe constipation from birth or early infancySwollen or bloated bellyDifficulty passing stool or no stool in the first days of lifeVomiting, especially green-colored vomitPoor feeding and slow weight gainSmall, thin, or poorly formed fingernails and toenailsUnusual facial features such as differences in eye shape, nose, or earsFailure to thrive in infancyBowel obstruction requiring urgent treatment
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 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hirschsprung disease-nail hypoplasia-dysmorphism syndrome.
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 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome.
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.What type of surgery does my child need, and when should it happen?,What are the signs of enterocolitis and what should I do if I notice them?,Should we do genetic testing, and which genes should be tested?,What long-term bowel problems might my child have after surgery, and how are they managed?,Are there any specialists or centers with experience in this specific syndrome?,What support is available for the nail and facial differences my child has?,Are there any patient registries or research studies we could join?
Common questions about Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
What is Hirschsprung disease-nail hypoplasia-dysmorphism syndrome?
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome (also sometimes referred to by its Orphanet code ORPHA:2153) is a very rare condition that combines three main problems: a bowel disorder called Hirschsprung disease, underdeveloped or abnormally shaped fingernails and toenails (nail hypoplasia), and distinctive facial features (dysmorphism). Hirschsprung disease happens when the nerve cells that normally control bowel movements are missing from part of the large intestine. This causes the bowel to become blocked, making it very hard to pass stool normally. Babies and children with thi
At what age does Hirschsprung disease-nail hypoplasia-dysmorphism syndrome typically begin?
Typical onset of Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.