Pallister-Killian syndrome

Pallister-Killian Syndrome (PKS) is a rare, genetic disorder characterized by a wide range of physical and intellectual disabilities. The syndrome is caused by the presence of an extra chromosome in some cells, specifically an isochromosome 12p, which is a chromosome with two identical arms. This chromosomal abnormality is mosaic, meaning it is not present in all cells, which contributes to the variability in symptoms and severity seen in individuals with PKS.

Symptoms and Characteristics

The symptoms of Pallister-Killian Syndrome can vary widely among affected individuals but often include:

• Hypotonia (decreased muscle tone)
• Intellectual disability
• Distinctive facial features, such as a high forehead, sparse hair on the temples, a broad nasal bridge, and a wide mouth
• Epilepsy
• Skin pigmentation anomalies
• Congenital diaphragmatic hernia
• Hearing loss
• Vision problems
• Heart defects
• Limb abnormalities

Diagnosis

Diagnosis of Pallister-Killian Syndrome is based on clinical evaluation and the identification of the isochromosome 12p through genetic testing. This testing is often performed using karyotyping or fluorescence in situ hybridization (FISH) on skin biopsy samples, as the mosaic chromosomal abnormality may not be detected in blood samples.

Management and Treatment

There is no cure for Pallister-Killian Syndrome, and treatment is symptomatic and supportive. Management may involve:

• A team of specialists, including a geneticist, neurologist, cardiologist, and audiologist, among others
• Physical therapy to improve muscle tone and mobility
• Special education programs tailored to the individual's needs
• Medications to manage seizures and other symptoms
• Regular monitoring for the development of new symptoms or complications

Prognosis

The prognosis for individuals with Pallister-Killian Syndrome varies depending on the severity of symptoms. While some individuals may have mild symptoms and live into adulthood, others may have more severe complications that can be life-limiting.

Epidemiology

Pallister-Killian Syndrome is extremely rare, with only a few hundred cases reported worldwide. It affects males and females equally and has been identified in individuals of various ethnic backgrounds.

Research

Research on Pallister-Killian Syndrome is ongoing, with studies focusing on better understanding the genetic causes, developing more effective diagnostic methods, and finding new treatments to improve the quality of life for affected individuals.

Pallister-Killian syndrome Resources
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