Pfeiffer syndrome is a genetic form of craniosynostosis, a deformity of the skull and face due to the premature fusing of one or more skull sutures. Pfeiffer syndrome also causes deformities of the hands and feet. Apparent at birth, it is a rare condition occurring in one in every 100,000 newborns. It is caused by mutations in the FGFR1 or FGFR2 genes, which play a role in embryo development.

Symptoms

Pfeiffer syndrome craniosynostosis creates an elongated skull and a flat mid-face region, or midfacial hypoplasia. This may cause airway obstruction, sleep apnea and a concave facial profile.

Pfeiffer syndrome affects the hands and feet, resulting in unusually short fingers and toes (brachydactyly), webbing or fusion between the fingers or toes (syndactyly), and wide thumbs and big toes that bend away from the other digits.

Other symptoms include:

  • Protruding and unprotected eyes (ocular proptosis)
  • Crowded teeth
  • Cleft palate and/or lip
  • Hearing loss due to defects in the middle ear

Fused spinal bones may also occur in the body.

The presence and severity of Pfeiffer syndrome symptoms differ depending on the type of Pfeiffer syndrome affecting your child.

Types

Infants with type I Pfeiffer syndrome have vertically elongated skulls, a high forehead, midface hypoplasia, widely spaced eyes (ocular hypertelorism), an underdeveloped upper jaw (hypoplastic maxilla) with a prominent lower jaw, and dental abnormalities. People with type I usually have normal intelligence and life span.

Infants affected by Pfeiffer syndrome type II typically have more severe symptoms. In type II, craniosynostosis causes the skull to have a unique “tri-lobed” or “cloverleaf” appearance, often associated with hydrocephalus, a build-up of fluid and pressure in the brain. Distinctive facial features may include an abnormally high, broad forehead, ocular proptosis, midface hypoplasia, a “beak-shaped” nose, and low-set ears. Infants may lack mobility in the elbow joints and have abnormalities in the internal organs. Infants with type II often have intellectual disabilities.

Pfeiffer syndrome type III is similar to but more severe than type II, excluding the “cloverleaf” skull deformity. A shortened base of the skull, an abnormal presence of certain teeth at birth (natal teeth), ocular proptosis, and/or abnormalities in the internal organs are common. Individuals with Pfeiffer syndrome type III often experience impaired mental development and potentially life-threatening complications.

Diagnosis

Craniosynostosis is diagnosed at birth, and a genetic test can then confirm Pfeiffer syndrome.

Treatment

The treatment of Pfeiffer syndrome is based on the specific symptoms of your child and should be addressed immediately after birth. Surgical treatment for craniosynostosis, shunts to drain excess fluid in the skull, and reconstructive surgery for the face, hands and feet are common treatments for this condition. The North Carolina Cleft and Craniofacial Center team takes a collaborative approach to treat complex conditions such as Pfeiffer syndrome and keeps parents informed throughout treatment.