Overview
Cardiocranial syndrome, Pfeiffer type (also known as Pfeiffer cardiocranial syndrome) is an extremely rare genetic condition that affects both the heart and the skull. This syndrome was first described by Pfeiffer and involves a combination of heart defects (congenital heart disease) and abnormalities in the shape and structure of the skull (craniosynostosis or other cranial malformations). Affected individuals may also have additional features such as abnormalities of the limbs, facial differences, and developmental delays. Because the heart and skull are both affected from birth, this condition is typically recognized in newborns or during infancy. Heart defects can range from mild to severe and may include structural problems such as septal defects or other malformations. The skull abnormalities can lead to an unusual head shape and may sometimes increase pressure inside the skull if the bones fuse too early. Treatment is focused on managing the specific symptoms each person has. Heart surgery may be needed to correct structural heart defects, and skull surgery (cranial surgery) may be required if there is premature fusion of skull bones. Developmental support, physical therapy, and regular monitoring by a team of specialists are important parts of care. Because this condition is so rare, there is limited published information, and management is highly individualized based on each patient's needs.
Also known as:
Key symptoms:
Heart defects present at birthAbnormal skull shapeEarly fusion of skull bones (craniosynostosis)Unusual facial featuresLimb abnormalitiesGrowth delaysDevelopmental delaysShort statureWidely spaced eyesDepressed nasal bridge
Clinical phenotype terms (34)— 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 Cardiocranial syndrome, Pfeiffer type.
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Specialists
View all specialists →No specialists are currently listed for Cardiocranial syndrome, Pfeiffer type.
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 Cardiocranial syndrome, Pfeiffer type.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How severe is my child's heart defect, and will surgery be needed?,Does my child have craniosynostosis, and if so, when should surgery be considered?,What developmental milestones should I watch for, and when should I be concerned?,Are there genetic tests that can help confirm the diagnosis or identify the cause?,What specialists should be part of my child's care team?,What are the signs of an emergency that I should watch for at home?,Is genetic counseling available for our family regarding future pregnancies?
Common questions about Cardiocranial syndrome, Pfeiffer type
What is Cardiocranial syndrome, Pfeiffer type?
Cardiocranial syndrome, Pfeiffer type (also known as Pfeiffer cardiocranial syndrome) is an extremely rare genetic condition that affects both the heart and the skull. This syndrome was first described by Pfeiffer and involves a combination of heart defects (congenital heart disease) and abnormalities in the shape and structure of the skull (craniosynostosis or other cranial malformations). Affected individuals may also have additional features such as abnormalities of the limbs, facial differences, and developmental delays. Because the heart and skull are both affected from birth, this condi
How is Cardiocranial syndrome, Pfeiffer type inherited?
Cardiocranial syndrome, Pfeiffer type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cardiocranial syndrome, Pfeiffer type typically begin?
Typical onset of Cardiocranial syndrome, Pfeiffer type is neonatal. Age of onset can vary across affected individuals.