Living with Ritscher-Schinzel syndrome
A rare syndrome present from birth that affects the head and face, the back of the brain (cerebellum), and the heart.
Understanding Ritscher-Schinzel syndrome
Head and face features include a prominent forehead, wide-set eyes, an eye gap (coloboma), and cleft palate. Brain features involve the cerebellum, such as a Dandy-Walker malformation. Heart features include holes between heart chambers and tetralogy of Fallot. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences, such as holes between chambers
- Small or missing cerebellum
- Dandy-Walker malformation
- Cleft palate
- Global developmental delay
- 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 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); 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 Dandy-Walker Alliance, Inc.
- 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
GARD lists both autosomal recessive and X-linked inheritance. It does not name a gene in this record.
Also known as: 3c syndrome; ccc dysplasia; cranio-cerebello-cardiac dysplasia syndrome; craniocerebellocardiac dysplasia; ritscher schinzel syndrome
Patient organizations
- Dandy-Walker Alliance, Inc.Ritscher-Schinzel syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Ritscher-Schinzel syndrome.
Explore research for Ritscher-Schinzel syndrome
Explore actively recruiting Ritscher-Schinzel syndrome studies with HealthSpark.
Find actively recruiting studies for Ritscher-Schinzel 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 Ritscher-Schinzel 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 Ritscher-Schinzel 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 Ritscher-Schinzel 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.