What Is Pallister Killian Syndrome? Causes, Symptoms

Pallister-Killian syndrome is a rare genetic disorder that affects various parts of the body. This condition arises due to a specific genetic abnormality and can lead to developmental delays and intellectual disabilities. Understanding this unique syndrome can help patients and their families navigate the challenges it presents.

What Are the Symptoms of Pallister Killian Syndrome

Patients may also have vision and hearing problems, seizures, and heart defects. Some individuals may exhibit behavioral issues and difficulties with speech. Early intervention and management can help improve quality of life for those with Pallister-Killian Syndrome.

Individuals with Pallister-Killian syndrome may experience intellectual disability, with delays in speech and motor skills development.
Many people with Pallister-Killian syndrome exhibit distinct facial features, such as a high forehead, sparse hair, and a flattened nasal bridge.
Hypotonia, or low muscle tone, is a common symptom of Pallister-Killian syndrome, leading to difficulties with movement and coordination.
Vision and hearing impairments are prevalent in individuals with Pallister-Killian syndrome, requiring regular monitoring and intervention.
Some people with Pallister-Killian syndrome may have seizures, which can vary in severity and require appropriate medical management.

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Causes of Pallister Killian Syndrome

This extra genetic material can lead to various developmental delays and physical abnormalities characteristic of the syndrome. The condition is not inherited and occurs sporadically.

Pallister-Killian syndrome is caused by a chromosomal abnormality known as a mosaic tetrasomy of the short arm of chromosome 12.
The syndrome can also result from a duplication of the isochromosome 12p, which leads to extra genetic material on chromosome 12.
Genetic mutations in the genes associated with chromosome 12 can contribute to the development of Pallister-Killian syndrome.
Environmental factors during pregnancy, such as exposure to toxins or infections, may increase the risk of a fetus developing Pallister-Killian syndrome.
In some cases, the exact cause of Pallister-Killian syndrome remains unknown, highlighting the complexity of this rare genetic disorder.

Types Of Pallister Killian Syndrome

Pallister-Killian syndrome has two main types: mosaic and non-mosaic. Mosaic PKS occurs when some cells in the body have extra genetic material, while others do not. Non-mosaic PKS means that all cells in the body have the extra genetic material. These different types can affect the severity and range of symptoms experienced by individuals with Pallister-Killian syndrome.

Pallister-Killian Syndrome with Tetralogy of Fallot: This rare genetic disorder characterized by the presence of both PKS and Tetralogy of Fallot, a congenital heart defect involving four abnormalities in the heart's structure.
Pallister-Killian Syndrome with Hypotonia: Individuals with this variant of PKS experience severe hypotonia, or low muscle tone, leading to challenges in motor skills development and mobility.
Pallister-Killian Syndrome with Seizures: Some individuals with PKS may exhibit seizures as a symptom, requiring proper management and treatment by healthcare professionals.
Pallister-Killian Syndrome with Hearing Loss: Hearing impairment can be a common feature of PKS, necessitating early intervention and support for communication and auditory development. Early hearing assessments and interventions, such as hearing aids or cochlear implants, may help improve quality of life.

Risk Factors

Risk factors include advanced maternal age, certain genetic mutations, and specific chromosomal abnormalities. Individuals with this syndrome may experience intellectual disabilities, distinctive facial features, and other health issues. Early diagnosis and appropriate medical care are important for managing the symptoms associated with Pallister-Killian syndrome.

Advanced maternal age, particularly over 35 years old, is a significant risk factor for Pallister-Killian Syndrome.
Mosaic tetrasomy 12p, a chromosomal abnormality where there is an extra copy of the short arm of chromosome 12 in some cells, increases the likelihood of developing Pallister-Killian Syndrome.
Maternal exposure to environmental toxins or teratogenic substances during pregnancy can raise the risk of a child being born with Pallister-Killian Syndrome.
Having a family history of chromosomal abnormalities or genetic disorders can predispose individuals to Pallister-Killian Syndrome.

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Diagnosis of Pallister Killian Syndrome

To diagnose Pallister-Killian syndrome, doctors typically conduct a physical exam, genetic testing, and imaging studies to look for characteristic features like intellectual disability, distinctive facial features, and extra or missing chromosomes.

Genetic testing is crucial for confirming the diagnosis. Early detection can help in creating a personalized treatment plan and providing necessary support for individuals with this rare genetic condition.

Chromosome analysis: A diagnostic method for Pallister-Killian syndrome involves analyzing the individual's chromosomes, specifically looking for the presence of extra copies of chromosome 12p.
Skin biopsy: Skin biopsy may be performed to detect the characteristic skin pigmentation patterns associated with Pallister-Killian syndrome, such as areas of hypopigmentation or hyperpigmentation.
MRI imaging: Magnetic resonance imaging (MRI) of the brain can help identify structural abnormalities in the brain that are commonly seen in individuals with Pallister-Killian syndrome.
EEG testing: Electroencephalography (EEG) may be used to assess brain activity and detect any abnormal electrical patterns that could indicate seizures, which are common in individuals with Pallister-Killian syndrome, aiding in proper seizure management.

Treatment for Pallister Killian Syndrome

Treatment for Pallister-Killian syndrome focuses on managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and educational support. Surgery may be required for certain physical abnormalities.

Regular medical monitoring is important to address any health concerns promptly. Genetic counseling can help families understand the condition and make informed decisions. Overall, a multidisciplinary approach is key in managing Pallister-Killian syndrome effectively.

Early intervention with occupational therapy, physical therapy, and speech therapy can help individuals with Pallister-Killian Syndrome improve their motor skills, communication abilities, and overall quality of life.
Genetic counseling is essential for families affected by Pallister-Killian Syndrome to understand the condition, its inheritance pattern, and the potential risks for future pregnancies.
Regular monitoring and management of associated health issues, such as seizures, hearing loss, and vision problems, are crucial in providing comprehensive care for individuals with Pallister-Killian Syndrome.
Surgical interventions may be required to address specific physical abnormalities commonly seen in Pallister-Killian Syndrome, such as cleft palate, heart defects, or limb anomalies.

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Frequently Asked Questions

How can pallister killian syndrome be identified through its signs?

Pallister-Killian syndrome can be identified by signs such as intellectual disability, low muscle tone, distinctive facial features, and extra or missing chromosomes on genetic.

What precautions should be taken for pallister killian syndrome?

Regular medical check-ups, early intervention for developmental delays, genetic counseling, and support services are important for managing Pallister-Killian syndrome.

Can pallister killian syndrome lead to other health issues?

Yes, Pallister-Killian Syndrome can lead to various health issues including intellectual disability, seizures, low muscle tone, and distinctive facial features.

How can pallister killian syndrome be treated and controlled?

Treatment aims to manage symptoms such as seizures, intellectual disability, and hypotonia. Supportive therapies like physical therapy can help improve quality of life.