Living with Hirschsprung disease-type D brachydactyly syndrome
A very rare genetic condition with a bowel problem from birth and short thumbs and big toes with small or missing nails.
Understanding Hirschsprung disease-type D brachydactyly syndrome
It involves Hirschsprung disease, where part of the colon lacks nerve cells. It also involves absent or small nails and short end bones in the thumbs and great toes (type D brachydactyly). It has been described in four males from one family. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Colon lacking nerve cells (aganglionic megacolon)
- Short fingers or toes (brachydactyly)
- Short end bone of the thumb
- Short bone in the big toe
- Small fingernails
- Absent or small toenails
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 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); 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 appears to be X-linked recessive, though another inheritance pattern can't be ruled out.
Also known as: familial hirschsprung's disease and type d brachydactyly; hirschsprung disease with type d brachydactyly
Patient organizations
- Pull-thru NetworkHirschsprung disease-type D brachydactyly syndrome · United States
- REACHHirschsprung disease-type D brachydactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Hirschsprung disease-type D brachydactyly syndrome.
Explore research for Hirschsprung disease-type D brachydactyly syndrome
Explore actively recruiting Hirschsprung disease-type D brachydactyly syndrome studies with HealthSpark.
Find actively recruiting studies for Hirschsprung disease-type D brachydactyly syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hirschsprung disease-type D brachydactyly syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hirschsprung disease-type D brachydactyly syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hirschsprung disease-type D brachydactyly syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.