Living with Haddad syndrome
A rare condition present from birth combining a breathing-control problem during sleep with a bowel condition missing nerve cells.
Understanding Haddad syndrome
CCHS, also called Ondine syndrome, affects automatic breathing control. Hirschsprung disease is a condition in which the colon is missing nerve cells. It is noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing that is too shallow, especially during sleep (hypoventilation)
- Enlarged colon missing nerve cells (aganglionic megacolon)
- Central sleep apnea
- Acid reflux
- Poor weight gain
- Low muscle tone and intellectual disability
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 brain and nervous system specialists, digestive system specialists, eye disease 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
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); 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 cause this condition. GARD lists autosomal dominant inheritance, which means one changed copy of a gene can be enough. It does not name the gene.
Also known as: congenital central alveolar hypoventilation with hirschsprung disease syndrome; congenital central alveolar hypoventilation-hirschsprung disease syndrome; ohd; ondine hirschsprung disease; ondine hirschsprung syndrome; ondine-hirschsprung disease
Patient organizations
- Pull-thru NetworkHaddad syndrome · United States
- REACHHaddad syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Haddad syndrome.
Explore research for Haddad syndrome
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