Pfeiffer syndrome
Disease Information
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.
