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Pfeiffer Syndrome in Children

  • Overview

    Pfeiffer syndrome is a genetic disorder in which certain skull bones fuse early and prevent the skull from growing normally, which affects the shape of the head and face.

    Physical characteristics of this syndrome include:

    • tall skull and high prominent forehead
    • sunken mid-face
    • prominent eyes that appear to be bulging out and may be spaced widely apart
    • underdeveloped upper jaw and protruding lower jaw
    • broad, short thumbs and large toes
    • possible webbing of hands and feet

    Most children with Pfeiffer syndrome are of normal intelligence.

    Partners in care

    The Advanced Fetal Care Center of Boston Children's Hospital supports the needs of your family at every step of care for Pfeiffer syndrome — from diagnosis and counseling through treatment and follow-up. The Center's groundbreaking work has significantly improved treatment for children with this condition, while delivering hope and compassionate care to families along the way.

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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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Contact the Craniofacial Anomalies Program

  • 1-617-355-6309
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
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