Living with Cole-Carpenter syndrome
An extremely rare bone condition with fragile bones and fractures, along with growth, skull and facial differences.
Understanding Cole-Carpenter syndrome
It has features of osteogenesis imperfecta, such as many fractures, bowed bones and blue-tinted whites of the eyes. It can also involve slow growth, early closing of skull joints (craniosynostosis), fluid build-up around the brain (hydrocephalus) and bulging eyes. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bones that break often (recurrent fractures)
- Bowing of the long bones
- Fluid build-up in the brain (hydrocephalus)
- Bulging eyes (proptosis)
- Prominent forehead and small lower jaw
- Low muscle tone and delayed tooth eruption
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, 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 rare disease patient organizations for support
- 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 genes cause this condition. It can be inherited in an autosomal dominant or autosomal recessive pattern.
Also known as: bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome; cole carpenter syndrome; cole-carpenter dysplasia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cole-Carpenter syndrome.
Explore research for Cole-Carpenter syndrome
Explore actively recruiting Cole-Carpenter syndrome studies with HealthSpark.
Find actively recruiting studies for Cole-Carpenter 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
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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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