Living with Hirschsprung disease-hearing loss-polydactyly syndrome
An extremely rare genetic condition with a bowel problem, hearing loss, extra fingers or toes, and a missing kidney.
Understanding Hirschsprung disease-hearing loss-polydactyly syndrome
It has been described in only two siblings, and not in the medical literature since 1988. It includes Hirschsprung disease, where part of the colon lacks nerve cells, leading to constipation and a swollen belly. It also includes extra fingers or toes, one missing kidney, wide-set eyes, and hearing loss from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Colon lacking nerve cells (aganglionic megacolon)
- Hearing loss from inner ear changes
- Extra little finger (postaxial polydactyly)
- Extra toes (foot polydactyly)
- Missing kidney (renal agenesis)
- Wide-set eyes (hypertelorism)
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 and genetic 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)
- 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: hirschsprung disease with polydactyly, renal agenesis, and deafness; hirschsprung disease-deafness-polydactyly syndrome; santos-mateus-leal syndrome
Patient organizations
- Pull-thru NetworkHirschsprung disease-hearing loss-polydactyly syndrome · United States
- REACHHirschsprung disease-hearing loss-polydactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Hirschsprung disease-hearing loss-polydactyly syndrome.
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