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Rady Children's Specialists

Syndromic Craniosynostosis

Our surgeons treat a variety of patients with syndromic craniosynostosis. These are inherited disorders resulting in abnormalities of the skull and face, and sometimes, the hands and feet. Forms of the syndrome include the following:

  • Crouzon syndrome
  • Apert syndrome
  • Pfeiffer syndrome

Syndromic craniosynostosis is characterized by premature closing of the skull plates, fusing or webbing of the digits, and other abnormalities. Long-term, life-limiting or life-threatening consequences may result from these abnormalities. Specialized evaluation by a pediatric craniofacial team is essential as soon as possible after birth.

Major characteristics of syndromic craniosynostosis include:

  • Skull deformities
  • Mid-face deformities
  • Eyes abnormally far apart
  • Depressed nasal bridge

Crouzon Syndrome

Crouzon syndrome is a rare disorder with premature closure of the coronal sutures and the bony growth centers in the base of the skull and behind the face. As a result, the skull is short and wide, and the mid-face and orbital bony structures are small.

Of the 70,000 infants born in the United States each week, it is estimated that one of these infants will have Crouzon syndrome.

Crouzon syndrome traits include:

  • Wide skull
  • High forehead
  • Wide-set eyes
  • Protrusion of the eyeballs
  • Airway obstruction
  • Underdevelopment of the upper jaw

Apert Syndrome

Apert syndrome is a rare disorder that is thought to have genetic origins similar to Crouzon syndrome. In addition to the skull, orbital and facial deformities, children with Apert Syndrome have complex syndactyly or fusion of the fingers and toes.

Apert Syndrome occurs in approximately one in 65,000 birth, a frequency similar to that of Crouzon syndrome.

Apert syndrome is characterized by the following:

  • Abnormally high forehead
  • Increased distance between the eyes
  • Prominence of the eyeballs
  • Midface hypoplasia and reduced airway
  • Abnormalities of fingers and toes
  • Narrow or cleft palate

Collaboration is Key to Treatment Success

Treatment of Apert syndrome requires coordinated care between craniofacial, neurosurgical and oral surgeons. Support from the geneticist, occupational therapist, nutritionist, speech pathologist and social worker will aid in providing a better quality of life for the patient.

Pfeiffer Syndrome

Pfeiffer syndrome is an inherited disorder which manifests itself in a host of craniofacial, dental and soft tissue abnormalities. All patients have a single mutation of the Fibroblast Growth Factor receptor 1 gene. Pfeiffer syndrome has been classified into three clinical subtypes, a variability that is thought to be due to different mutations on the Fibroblast Growth Factor receptor 2 gene.

An early comprehensive evaluation by an experienced pediatric craniofacial team is paramount to ensure a patient’s long-term health.

Characteristics of Pfeiffer syndrome include the following:

  • Short and cone-shaped head
  • Wide-set and protruding eyes
  • Beaked nose
  • Highly arched or cleft palate
  • Hearing loss

Early Intervention for Long-Term Health

An early comprehensive evaluation by an experienced pediatric craniofacial team is paramount to ensure a patient’s long-term health. Team members will address all potential options and recommend the most advantageous age for treatment.