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► Pfeiffer syndrome

Pfeiffer syndrome

Also known as: Acrocephalosyndactyly–Pfeiffer–type

What is Pfeiffer syndrome?

Pfeiffer syndrome was first described in 1964 by Dr. Pfeiffer.  This condition is also called Acrocephalosyndactyly –Pfeiffer –type which means “tall” head with variable fusion of the fingers.  Pfeiffer syndrome has been divided into three clinical categories based on the clinical features found in the affected individual:

Type 1

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

Type 2

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

Type 3

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% 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 is the prognosis?

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 healthy adults.

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