Living with Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
A rare genetic condition with a bowel problem, small nails and limbs, unusual facial features, and kidney problems.
Understanding Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
It can cause Hirschsprung disease, a problem with the large intestine. It can also cause small nails, small limbs, and unusual facial features. Some people have hydronephrosis, which is swelling of the kidneys. It is seen in newborns.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Hirschsprung disease (large intestine problem)
- Small nails
- Small limbs
- Unusual facial features
- Kidney swelling (hydronephrosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pull-thru Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: al gazali donnai muller syndrome; al gazali-donnai-muller syndrome; hirschsprung disease with hypoplastic nails and dysmorphic facial features; hirschsprung disease with nail hypoplasia and dysmorphism; hirschsprung's disease, hypoplastic nails, and dysmorphic facial features
Patient organizations
- Pull-thru NetworkHirschsprung disease-nail hypoplasia-dysmorphism syndrome · United States
- REACHHirschsprung disease-nail hypoplasia-dysmorphism syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hirschsprung disease-nail hypoplasia-dysmorphism syndrome.
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