Overview
Carpenter syndrome, also known as acrocephalopolysyndactyly type II (ACPS II), is a rare genetic condition that affects the development of the skull, face, hands, and feet before birth. The skull bones fuse too early — a problem called craniosynostosis — which can change the shape of the head and put pressure on the growing brain. Along with the skull, the fingers and toes may be fused together (syndactyly) or there may be extra fingers or toes (polydactyly). The face may look different, with widely spaced eyes, a flat nasal bridge, and low-set ears. Beyond the bones, Carpenter syndrome can affect many other parts of the body. Heart defects are common and can be serious. Many children have intellectual disability, though the degree varies widely. Some children have obesity, underdeveloped genitals, and short stature. Hearing loss and vision problems can also occur. Treatment focuses on managing each symptom. Surgery is often needed early in life to release the fused skull bones and protect brain development. Heart defects may also require surgery. A team of specialists works together to support the child's growth, learning, and quality of life. There is currently no cure, but early intervention can make a meaningful difference.
Also known as:
Key symptoms:
Skull bones that fuse too early, changing the shape of the head (craniosynostosis)Fused fingers or toes (syndactyly)Extra fingers or toes (polydactyly)Heart defects present at birthIntellectual disability or developmental delaysObesity, often developing in childhoodShort statureWidely spaced or slanted eyesFlat nasal bridge and low-set earsUnderdeveloped genitals in males (genital hypoplasia)Hearing lossVision problemsUmbilical hernia (belly button bulge)Low muscle tone (hypotonia)
Clinical phenotype terms (40)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Carpenter syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Carpenter syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Carpenter syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which genes caused my child's Carpenter syndrome, and what does that mean for other family members?,Does my child need skull surgery, and if so, when is the best time to do it?,Has a heart defect been found, and what treatment does it need?,What therapies should we start right away to support my child's development?,What signs should prompt me to seek emergency care?,Are there any clinical trials or research studies we could participate in?,What educational and community support services are available for my child?
Common questions about Carpenter syndrome
What is Carpenter syndrome?
Carpenter syndrome, also known as acrocephalopolysyndactyly type II (ACPS II), is a rare genetic condition that affects the development of the skull, face, hands, and feet before birth. The skull bones fuse too early — a problem called craniosynostosis — which can change the shape of the head and put pressure on the growing brain. Along with the skull, the fingers and toes may be fused together (syndactyly) or there may be extra fingers or toes (polydactyly). The face may look different, with widely spaced eyes, a flat nasal bridge, and low-set ears. Beyond the bones, Carpenter syndrome can a
How is Carpenter syndrome inherited?
Carpenter syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Carpenter syndrome typically begin?
Typical onset of Carpenter syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Carpenter syndrome?
16 specialists and care centers treating Carpenter syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.