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Pfeiffer Syndrome at North Austin Campus

Conditions

min. read

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.

It 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.

Patients can be seen in North Austin by Texas Children's experts in Plastic Surgery, Neurosurgery, Orthodontics, and Pediatric Dentistry.

Symptoms & Types

Physical characteristics of this syndrome may 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

Pfeiffer syndrome can present in a wide variety of ways, from very mild and requiring little treatment, to very severe requiring carefully staged treatment early in life. Most children with Pfeiffer syndrome are of normal intelligence but may early staged treatment to meet their potential. 

Diagnosis & Tests

Diagnosis starts with a detailed medical history and a physical exam.

Additional testing such as blood tests and imaging studies are conducted based on each child’s individual presentation.

Treatment & Care

Treatment depends on the individual patient and the severity of their symptoms.

All members of the craniofacial team may be involved in the care of children with Apert Syndrome at different times in the child's life. Our medical team includes:

  • Pediatric craniofacial surgeon (plastic surgeon with fellowship training in craniofacial surgery)
  • Pediatric neurosurgeon
  • Ear, nose and throat specialist
  • Pediatric ICU specialists
  • Difficult airway team 
  • Ophthalmologist
  • Craniofacial orthodontist (fellowship trained in craniofacial care)
  • Pediatric hand surgeon

Surgeries your child with Apert syndrome may require include the treatment of Craniosynostosis and procedures we specialize in for the treatment of Complex Craniofacial Syndromes. Our team introduced the Lefort 2 distraction osteogenesis with simultaneous zygomatic repositioning (LF2ZR). No other center has more experience in this powerful technique to rebalance the proportions of the midface and improve breathing. We have also described an early staged approach to a severe presentation of Pfeiffer syndrome related the gene mutation W290C, which has resulted in superior outcomes to previous approaches.