Living with Pfeiffer syndrome
A genetic condition in which skull bones fuse too early, shaping the head and face and affecting the hands and feet.
Understanding Pfeiffer syndrome
The early fusion keeps the skull from growing normally and affects the shape of the head and face. It leads to wide-set, bulging eyes, a high forehead, and an underdeveloped upper jaw. The thumbs and big toes are wide and bend away from the other digits. More than half of children have hearing loss, and dental problems are common. There are three types, and types 2 and 3 are more severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early fusion of skull bones (craniosynostosis)
- Wide-set, bulging eyes
- High forehead
- Broad thumbs and big toes
- Short or webbed fingers and toes
- Hearing loss
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.
- 4Connect with expert centers
Hydrocephalus Association and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hydrocephalus Association, 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 Hydrocephalus 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
Changes in the genes (also called variants) cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it. GARD doesn't list a specific gene.
Also known as: acrocephalosyndactylia type v; acrocephalosyndactyly type 5; acs v; acs5; fgfr1-related craniosynostosis; pfeiffer-type acrocephalosyndactyly
Patient organizations
- Hydrocephalus AssociationPfeiffer syndrome · United States
- Born A Hero Research FoundationPfeiffer syndrome · United States
- Craniosynostosis and Positional Plagiocephaly Support IncPfeiffer syndrome · United States
- FACES: The National Craniofacial AssociationPfeiffer 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 Pfeiffer syndrome.
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