Also known as: Acrocephalosyndactyly–Pfeiffer–type
What is Pfeiffer syndrome?
Pfeiffer syndrome is a genetic disorder characterized by early fusion of the bones of the skull (craniosynostosis). This in turn leads to abnormalities of the head and face. The disease is present at birth, and symptoms can persist and worsen as a person ages.
Pfeiffer syndrome was first described in 1964 by Dr. Rudolph Arthur Pfeiffer. This condition is also called acrocephalosyndactyly –Pfeiffer type which means “tall” head with variable fusion of the fingers.
What are the signs/symptoms of Pfeiffer Syndrome?
Pfeiffer syndrome has been divided into three clinical categories based on the clinical features found in the affected individual:
- Craniosynostosis (premature closure of the skull sutures)
- Broad thumbs and great toes with variable fusion of bone/skin of fingers (syndactyly)
- Normal/near normal intelligence
- Cloverleaf shaped skull due to craniosynostosis of multiple sutures.
- Severe ocular proptosis (protruding eyes)
- Broad thumbs and great toes
- Central nervous system anomalies
- Limited extension of elbow
- Similar to type 2 without cloverleaf shaped skull
What causes Pfeiffer syndrome?
This condition is caused by a change (“mutation”) in a gene that is part of a group of genes called the Fibroblast Growth Factor Receptor Genes (FGFR). Mutations in two FGFR genes have been found in individuals with Pfeiffer syndrome. The two genes are FGFR1 and FGFR2. Mutations in FGFR1 are usually found in the milder cases (Type 1) where as mutations in FGFR2 are found in persons with Types 2 and 3. Pfeiffer syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Pfeiffer syndrome, his/her offspring would have a 50 percent risk for also having Pfeiffer syndrome.
Most individuals with Pfeiffer syndrome are the first cases in the family. This means that the parents of the affected child do not have Pfeiffer syndrome. If a child’s parents do not have Pfeiffer syndrome, the risk to their other pregnancies is low.
What are Pfeiffer syndrome care options?
There is no cure for Pfeiffer syndrome. The individual symptoms can be treated as they occur in order to give individuals with the disease the best quality of life possible. The Craniofacial team at Nicklaus Children’s Hospital has a large experience in treating patients with Pfeiffer Syndrome. Care is individualized for each child to maximize aesthetic and functional outcomes.
What is the prognosis for children with Pfeiffer Syndrome??
With aggressive medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are required for these children but most will ultimately, attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, most of these children can grow to be healthy adults.
Reviewed by: Chad A Perlyn, MD
This page was last updated on: November 13, 2020 03:35 PM