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.
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
Most children with Pfeiffer syndrome are of normal intelligence.
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, which can involve surgery, depends on the individual patient and the severity of the symptoms.
An early comprehensive evaluation by an experienced pediatric craniofacial team is important to ensure a child’s long-term health. At Texas Children’s Hospital’s Craniofacial Program, we take a multi-disciplinary approach to this condition. Our team typically includes:
- Pediatric neurosurgeons
- Pediatric craniofacial surgeons (plastic surgeons)
- Ear, nose and throat specialists
- Oral surgeons
- Speech pathologists
- Social workers
All members of the team may be involved in the care of children with Pfeiffer Syndrome at different times in the child's life.