Pagon–Stephan syndrome

Pagon–Stephan syndrome
Synonyms
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Craniosynostosis, syndactyly, congenital heart defects
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Pagon–Stephan syndrome is a rare genetic disorder characterized by a combination of craniosynostosis, syndactyly, and congenital heart defects. It is named after the researchers who first described the condition.

Presentation

Individuals with Pagon–Stephan syndrome typically present with:

• Craniosynostosis: Premature fusion of one or more of the cranial sutures, leading to an abnormal head shape and potentially increased intracranial pressure.
• Syndactyly: Fusion of two or more digits, which can affect both the hands and feet.
• Congenital heart defects: Structural abnormalities of the heart present from birth, which may include septal defects or valve malformations.

Genetics

Pagon–Stephan syndrome is believed to be caused by mutations in a specific gene, although the exact genetic basis is not fully understood. It is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Pagon–Stephan syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the associated gene.

Management

Management of Pagon–Stephan syndrome is symptomatic and supportive. Treatment may involve:

• Surgical intervention: To correct craniosynostosis and syndactyly, and to address any congenital heart defects.
• Regular monitoring: To assess and manage any complications related to increased intracranial pressure or cardiac function.
• Multidisciplinary care: Involving specialists in genetics, cardiology, neurology, and orthopedics.

Prognosis

The prognosis for individuals with Pagon–Stephan syndrome varies depending on the severity of the symptoms and the presence of any complications. Early diagnosis and intervention can improve outcomes.

Also see

• Craniosynostosis
• Syndactyly
• Congenital heart defect
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Pagon–Stephan syndrome

Pagon–Stephan syndrome is a rare disease.

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