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  1. Pfeiffer syndrome - Wikipedia

    Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face.

  2. Pfeiffer Syndrome: Symptoms, Causes, Diagnosis, Treatment

    Pfeiffer syndrome is a genetic condition that causes a baby’s head, face, fingers and toes to form differently due to the joints in their skull closing too soon.

  3. Pfeiffer syndrome | About the Disease | GARD - Genetic and Rare ...

    Pfeiffer syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when …

  4. Pfeiffer Syndrome - Children's Hospital of Philadelphia

    Pfeiffer syndrome, also known as acrocephalosyndactyly Type V, is a genetic disorder characterized by the anomalies of the skull, face, and limbs. Gene mutations are responsible for causing the early …

  5. What Is Pfeiffer Syndrome? Can My Baby Be Treated? - WebMD

    Mar 22, 2024 · Pfeiffer syndrome is a rare condition where a baby’s skull plates join together earlier than usual. Learn more about the causes, symptoms, and treatment options, including surgery.

  6. Pfeiffer Syndrome: What Is It, Causes, Signs and Symptoms ... - Osmosis

    Mar 4, 2025 · Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of the bones of the skull, also known as craniosynostosis. This prevents the skull from growing as usual …

  7. Pfeiffer Syndrome: Type 1, 2, and 3 Plus Treatment and ... - Healthline

    Apr 26, 2018 · Pfeiffer syndrome happens because the bones that form your child’s skull, hands, or feet fuse together too early while they’re in the womb. This is what causes your child to be born with an...

  8. PFEIFFER SYNDROME - FACES

    Learn about Pfeiffer Syndrome — a rare genetic craniofacial condition involving early skull suture fusion, distinctive facial features, limb differences, treatment considerations, and support resources for families.

  9. What is Pfeiffer syndrome? | Nicklaus Children's Hospital

    Jun 3, 2025 · Learn about the characteristics, causes and types of Pfeiffer syndrome, a genetic disorder that affects craniofacial development.

  10. Pfeiffer Syndrome - StatPearls - NCBI Bookshelf

    Pfeiffer syndrome (PS, OMIM #101600) is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great toes, and soft tissue …