Pfeiffer syndrome

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Pfeiffer's syndrome type II with cloverleaf shaped skull and bilateral proptosis

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull, leading to an abnormal shape of the head and face. This condition is classified as a type of craniosynostosis. It is named after the German geneticist Rudolf Arthur Pfeiffer, who first described the syndrome in 1964.

Classification

Pfeiffer syndrome is typically divided into three subtypes based on the severity of symptoms:

• Type 1 (Classic Pfeiffer syndrome): This is the mildest form and is characterized by craniosynostosis, broad and short thumbs and toes, and partial soft tissue syndactyly (webbing) of the hands and feet. Individuals with Type 1 usually have normal intelligence and a normal lifespan.
• Type 2 (Cloverleaf skull syndrome): This form is more severe and is characterized by a cloverleaf-shaped skull due to the premature fusion of multiple skull bones. It often leads to severe neurological impairment and other complications.
• Type 3: Similar to Type 2 but without the cloverleaf skull. It includes severe craniosynostosis, significant developmental delays, and other systemic complications.

Causes

Pfeiffer syndrome is caused by mutations in the FGFR1 or FGFR2 genes. These genes provide instructions for making proteins that are involved in the development and maintenance of bone and brain tissue. Mutations in these genes lead to the abnormal development of bones in the skull, hands, and feet.

Symptoms

The symptoms of Pfeiffer syndrome can vary widely but often include:

• Abnormal head shape due to craniosynostosis
• Broad, short thumbs and toes
• Partial soft tissue syndactyly of the hands and feet
• Proptosis (bulging eyes)
• Midface hypoplasia (underdeveloped midfacial region)
• Hearing loss
• Dental problems

Diagnosis

Diagnosis of Pfeiffer syndrome is typically based on clinical evaluation, characteristic physical findings, and genetic testing to identify mutations in the FGFR1 or FGFR2 genes.

Treatment

Treatment for Pfeiffer syndrome often involves a multidisciplinary approach, including:

• Craniofacial surgery to correct skull abnormalities and relieve pressure on the brain
• Orthopedic surgery to address hand and foot abnormalities
• Hearing aids or other interventions for hearing loss
• Dental care for dental anomalies
• Developmental support and therapies

Prognosis

The prognosis for individuals with Pfeiffer syndrome varies depending on the type and severity of the condition. Those with Type 1 generally have a normal lifespan and intelligence, while those with Types 2 and 3 may have significant medical challenges and a reduced lifespan.

Related Pages

• Craniosynostosis
• FGFR1
• FGFR2
• Craniofacial surgery
• Syndactyly

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