Living with Waardenburg-Shah syndrome
A genetic condition with hearing loss, changes in hair, skin, and eye color, and a bowel condition called Hirschsprung disease.
Understanding Waardenburg-Shah syndrome
People can have hearing loss and changes in the color of the hair, skin, and eyes. Hirschsprung disease is a bowel disorder in which nerve cells are missing from part of the colon, causing severe constipation or blockage. Signs are present in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Severe constipation or blocked bowel
- Enlarged colon missing nerve cells (Hirschsprung disease)
- Loss of hair color or early graying
- White eyebrow
- Eyebrows that meet in the middle
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, ear, nose, and throat 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); Ear, nose, and throat specialists (otolaryngologists); 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
It may be caused by changes in the EDNRB, EDN3, or SOX10 genes. It is usually autosomal dominant, though some cases look autosomal recessive.
Also known as: shah-waardenburg syndrome; waardenburg syndrome type 4; waardenburg syndrome type iv; waardenburg-hirschsprung syndrome; ws4
Patient organizations
- Pull-thru NetworkWaardenburg-Shah syndrome · United States
- REACHWaardenburg-Shah syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Waardenburg-Shah syndrome.
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