Potocki–Shaffer syndrome

Potocki–Shaffer syndrome (PSS) is a rare genetic disorder characterized by multiple congenital anomalies and intellectual disability. It is caused by a deletion of genetic material on the short arm of chromosome 11 (11p11.2). The syndrome is named after Dr. Lorraine Potocki and Dr. Lisa Shaffer, who first described the condition.

Clinical Features

Individuals with Potocki–Shaffer syndrome typically present with a variety of clinical features, which may include:

• Craniosynostosis: Premature fusion of the skull bones.
• Multiple exostoses: Benign bone growths.
• Intellectual disability: Ranging from mild to severe.
• Developmental delay: Delays in reaching developmental milestones.
• Hypotonia: Reduced muscle tone.
• Distinctive facial features: Including a broad forehead, hypertelorism (wide-set eyes), and a flat nasal bridge.
• Hearing loss: Due to structural abnormalities of the ear.

Genetics

Potocki–Shaffer syndrome is caused by a deletion of a segment of chromosome 11 at the 11p11.2 region. This deletion affects several genes, including EXT2 and PHF21A, which are believed to contribute to the clinical features of the syndrome. The deletion can occur de novo (new mutation) or be inherited from a parent with a balanced translocation.

Diagnosis

The diagnosis of Potocki–Shaffer syndrome is typically made based on clinical evaluation and confirmed by genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). These tests can identify the specific deletion on chromosome 11.

Management

There is no cure for Potocki–Shaffer syndrome, and treatment is symptomatic and supportive. Management may include:

• Surgical intervention: For craniosynostosis and multiple exostoses.
• Physical therapy: To improve muscle tone and motor skills.
• Speech therapy: To address communication difficulties.
• Special education: To support learning and development.
• Hearing aids: For individuals with hearing loss.

Prognosis

The prognosis for individuals with Potocki–Shaffer syndrome varies depending on the severity of the symptoms and the presence of associated complications. With appropriate medical care and support, many individuals can lead fulfilling lives.

Related Pages

• Chromosome 11
• Craniosynostosis
• Multiple exostoses
• Intellectual disability
• Developmental delay
• Hypotonia
• Genetic testing

References

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