Living with Coffin-Lowry syndrome
An X-linked condition affecting many parts of the body, usually more severely in males, with learning disability and distinct facial features.
Understanding Coffin-Lowry syndrome
Males typically have severe to profound intellectual disability and delayed development. Females may have normal thinking or intellectual disability from mild to profound. Some people have brief episodes of collapse when excited or startled by a loud noise (SIDEs). Most males have distinct facial features, and soft hands with short, tapered fingers are common. GARD lists onset from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed development
- Small head size (microcephaly)
- Coarse facial features
- Walking difficulty
- Broad fingers and spine bone differences
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in RPS6KA3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 Children's Craniofacial Association 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 RPS6KA3 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: cls; cls - coffin-lowry syndrome; coffin lowry syndrome; coffin-lowry syndrome, mild; coffin-lowry syndrome, x-linked dominant
Patient organizations
- Children's Craniofacial AssociationCoffin-Lowry syndrome · United States
- Coffin-Lowry Syndrome FoundationCoffin-Lowry syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Coffin-Lowry syndrome.
Explore research for Coffin-Lowry syndrome
Explore actively recruiting Coffin-Lowry syndrome studies with HealthSpark.
Find actively recruiting studies for Coffin-Lowry 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 Coffin-Lowry 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 Coffin-Lowry 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 Coffin-Lowry 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.