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Pfeiffer Syndrome
Wednesday, 09 July 2003
Wednesday, 06 July 2005

What

Pfeiffer syndrome is a genetic disorder characterized by early closure of the sutures in the skull. Sutures are the lines or space between the bones of the skull that let the head grow as the brain grows. If they close too early, the head cannot grow normally to accommodate the growing and developing brain. Also because of the abnormal sutures, the shape of the head and face are affected by the premature fusion (early closure).

Who

Pfeiffer syndrome occurs in all ethnicities and equally affects both males and females. The incidence of Pfeiffer syndrome is 1 in 100,000 births.

Signs and Symptoms

There are three types of Pfeiffer syndrome. All of the types have the characteristic early suture closure. They can have a lot of ear infections and dental problems. Types 2 and 3 are more common than Type 1. In Type 1, intellect is usually normal. The middle of the face including the eye, nose, and cheek area is flat with a nose that is curved resembling a parrot’s “beak”. The thumbs and big toes are wide. Some children can develop hearing problems or have hydrocephalus (extra fluid around the brain). In Type 2 and 3, intellect can be affected with developmental delay or mental retardation. The eyes bulge out, are spaced widely apart, and the child cannot close the eyelids all the way. The fingers can be short, the thumbs and big toes are wide, and there can be elbow or knee problems. The nasal passages can be small. There can be abnormalities of the throat. There may be hydrocephalus (extra fluid around the brain) or seizures. In Type 2, the head shape is very abnormal and resembles the shape of a “cloverleaf”. In Type 3, the head shape has a very flat forehead.

Possible Causes

Pfeiffer syndrome is usually caused by changes (mutations) in a gene called FGFR2. This gene is located on chromosome10. Some cases are caused by mutations in the FGFR1 gene which is located on chromosome 8. In other cases, the cause is unknown. Pfeiffer syndrome is inherited in an autosomal dominant manner.

Diagnosis

The diagnosis of Pfeiffer syndrome is made by having the above signs and symptoms including craniosynostosis (early fusion of the sutures of the skull) and abnormal thumbs and/or first toes. Genetic testing can be done to confirm the diagnosis.

Treatment

There is no cure for Pfeiffer syndrome. The child should be followed by a team of specialists such as a craniofacial team. This includes a plastic surgeon, neurosurgeon (brain surgeon), otolaryngologist (ear, nose, and throat doctor), pediatrician, geneticist, dentist, orthodontist, audiologist (hearing specialist), developmental specialist, and social worker. Treatment by the team includes many surgical procedures. During the first year of life, the sutures in the skull that have closed too early are separated to allow room for the brain to grow. If there is hydrocephalus, this should be treated to decrease the amount of fluid that builds up around the brain. As the child grows, additional surgeries are done to help shape the head. If needed, surgery can be performed to separate the webbed fingers and toes or help the elbows and knees. If the child has developmental delay, it is important to provide early therapy and education services.

Prognosis

The prognosis for children with Pfeiffer syndrome varies from child to child and depends on how severe the symptoms are. The appearance of the head and face usually improve as the child gets older. Type 1 can have a better prognosis than Types 2 and 3 because intellect is often normal and there are less severe symptoms.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Craniofacial Association
A great site with comprehensive information about Pfeiffer syndrome, links, and support groups.

Genetics Home Reference
A nice site with information about Pfeiffer syndrome.

World Craniofacial Foundation
A good site for parents with information disorders that affect the head and face.

Google Search for Pfeiffer Syndrome

References and Sources

OMIM: Pfeiffer Syndrome. McKusick, V. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101600 Gene Reviews: FGFR-Related Craniosynostoses. www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=auKSeKCjSGlts&gry=&fcn=y&fw=c6oV&filename=/profiles/craniosynostosis/index.html home.mdconsult.com/das/book/29603703/view/873/1495.html/top