Living with Cardiocranial syndrome, Pfeiffer type
A rare condition with differences in the face and skull, heart defects, and delays in growth and learning.
Understanding Cardiocranial syndrome, Pfeiffer type
Common features include facial differences such as early closing of a skull joint, heart defects, and genital differences, as well as slow growth. Some people also have airway differences, stiff joints, joined fingers or toes, rib differences, or small kidneys. Rarely, there is no heart difference. It begins in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closing of a skull joint (sagittal craniosynostosis)
- Heart differences
- Delayed development and intellectual disability
- Slow growth
- Small lower jaw (micrognathia)
- High, narrow palate and bifid uvula
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 and genetic 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)
- 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 World Craniofacial Foundation 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 may be inherited in an autosomal dominant or an autosomal recessive way. No specific gene is listed.
Also known as: cardiocranial syndrome pfeiffer type; craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis; craniosynostosis with congenital heart disease and intellectual disability syndrome; craniosynostosis-congenital heart disease-intellectual disability syndrome; pfeiffer singer zschiesche syndrome; pfeiffer-singer-zschiesche syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Cardiocranial syndrome, Pfeiffer type.
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