Living with Coffin-Siris syndrome 1
A rare genetic condition with intellectual disability, distinct facial features, extra body hair, and underdeveloped fifth fingernails or toenails.
Understanding Coffin-Siris syndrome 1
Other symptoms include extra body hair and sparse scalp hair, and underdeveloped or missing fifth fingernails or toenails. Features that vary include poor overall growth, skull and spine differences, and heart defects.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Delayed walking
- Broad nasal tip
- Cleft palate
- Nearsightedness or crossed eyes
- Small teeth
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Simons Searchlight 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
GARD says changes in the ARID1B gene cause this condition. It is autosomal dominant, so a single changed copy of the gene is enough to cause it.
Also known as: arid1b-related bafopathy; arid1b-related coffin-siris syndrome; css1; hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features; intellectual disability, autosomal dominant 12; mrd12
Patient organizations
- Simons SearchlightCoffin-Siris syndrome 1 · United States
- Coffin-Siris Syndrome FoundationCoffin-Siris syndrome 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Coffin-Siris syndrome 1.
Explore research for Coffin-Siris syndrome 1
Explore actively recruiting Coffin-Siris syndrome 1 studies with HealthSpark.
Find actively recruiting studies for Coffin-Siris syndrome 1 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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