Living with Carpenter syndrome
A condition with early fusing of skull bones, differences in the fingers and toes, and other developmental problems.
Understanding Carpenter syndrome
Early skull fusion keeps the skull from growing normally. It often gives the head a pointed shape and can cause differences between the two sides of the head and face. In severe cases the skull has a cloverleaf shape. Symptoms can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early fusion of skull bones (craniosynostosis)
- Joined fingers (syndactyly)
- Joined toes
- Short fingers or toes (brachydactyly)
- Broad thumbs
- Heart and eye 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 bone and joint specialists, brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial 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); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: World Craniofacial 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 FACES: The National 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 genes cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: acps2; acrocephalopolysyndactyly type 2; acrocephalopolysyndactyly type ii; carpenter 's syndrome; type ii acrocephalopolysyndactyly
Patient organizations
- FACES: The National Craniofacial AssociationCarpenter syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Carpenter syndrome.
Explore research for Carpenter syndrome
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