Living with Costello syndrome
A rare genetic condition with delayed development, loose skin, heart problems, and distinct facial features.
Understanding Costello syndrome
It causes delayed development, loose folds of skin (especially on the hands and feet), very flexible joints, heart problems, short stature, and distinctive facial features. Children are often late to speak, sit, and walk, and intellectual disability varies in severity. Babies may be larger than average at birth but usually have feeding difficulty and grow more slowly. Heart problems include abnormal rhythm, structural defects, and a thickened heart muscle (hypertrophic cardiomyopathy).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Loose skin and flexible joints
- Heart problems
- Feeding difficulties and slow growth
- Short stature
- Vision problems, such as nearsightedness or crossed eyes
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 bone and joint specialists, brain and nervous system specialists, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in HRAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hypertrophic Cardiomyopathy Association, RASopathies Network and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hypertrophic Cardiomyopathy Association, RASopathies Network, Children's Cardiomyopathy Foundation
- 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 Hypertrophic Cardiomyopathy 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
It is caused by changes in the HRAS gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: congenital myopathy with excess of muscle spindles; cstlo; faciocutaneoskeletal syndrome; fcs syndrome
Patient organizations
- Hypertrophic Cardiomyopathy AssociationCostello syndrome · United States
- RASopathies NetworkCostello syndrome · United States
- Costello Syndrome Family NetworkCostello syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Costello syndrome.
Explore research for Costello syndrome
Explore actively recruiting Costello syndrome studies with HealthSpark.
Find actively recruiting studies for Costello 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 Costello 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 Costello 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 Costello 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.