What does PKS mean in SYNDROMES
Pallister Killian Syndrome (PKS) is a rare genetic disorder that affects development. It is associated with an extra copy of chromosome 12, which can cause various physical and intellectual impairments. Individuals affected by this rare disorder face a wide range of challenges, ranging from learning disabilities to physical limitations. That said, individuals with Pallister Killian Syndrome are still able to live meaningful lives and find joy in the unique opportunities available to them.
PKS meaning in Syndromes in Medical
PKS mostly used in an acronym Syndromes in Category Medical that means Pallister Killian Syndrome
Shorthand: PKS,
Full Form: Pallister Killian Syndrome
For more information of "Pallister Killian Syndrome", see the section below.
Symptoms
Common symptoms experienced by those living with PKS include low muscle tone, developmental delays, facial anomalies such as cleft lip or palate, seizures or other neurological issues and growth delays. Other possible symptoms include hearing loss, heart defects and kidney or bladder problems. In addition to physical impairments, individuals with PKS may also demonstrate cognitive deficits leading to intellectual disabilities.
Diagnosis & Treatment
Diagnosis of PKS typically involves genetic testing known as karyotyping and molecular studies that look for chromosomal abnormalities including an extra copy of chromosome 12. Once diagnosed, there is no cure for PKS however children can benefit from physical therapy, speech therapy and occupational therapy to help them reach their developmental milestones. In addition to these services, medications are also available to help treat any seizure activity or other neurological issues related to the syndrome.
Essential Questions and Answers on Pallister Killian Syndrome in "MEDICAL»SYNDROMES"
What is Pallister Killian Syndrome?
Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by an extra chromosomal segment on the short arm of chromosome 12. It can cause a wide range of developmental disabilities and physical anomalies.
What are the common characteristics of PKS?
Common characteristics of PKS may include low muscle tone, intellectual disability, facial dysmorphia, and heart defects. Other less common characteristics can include seizures, hearing loss, vision problems, kidney problems, skeletal abnormalities, cleft lip or palate, and abnormal growth patterns.
How is PKS diagnosed?
Diagnosis of PKS usually occurs after birth when the child exhibits typical symptoms associated with the disorder. Tests that may be conducted include karyotyping to examine chromosomal make-up or fluorescence in situ hybridization (FISH) to detect additional copies of chromosome 12.
Who is at risk for developing PKS?
PKS occurs in 1 in 25000 live births and affects both men and women equally. The risk increases when parents have a history of having children with this genetic abnormality or if they have had prenatal testing showing an extra copy of chromosome 12.
Is there a cure for PKS?
Currently there is no cure for PKS; however treatments such as physical therapy, occupational therapy, speech therapy and medications can help manage symptoms associated with the disorder.
Are people with PKS at greater risk for infections?
Yes, those living with PKS may be more susceptible to recurrent infections due to immune system deficiencies often present in those with this disorder. Regular monitoring for signs and symptoms should take place so proper treatment can begin if needed.
How long do individuals with PKs typically live?
There is no set life expectancy rate as it varies from person to person depending on severity of their specific case as well as how well they are managed medically over time. Generally speaking most individuals with PKs will reach adulthood but may require continuous care throughout their lives.
What services are available for people living with PKs?
Services vary depending on location but generally include support groups for families to discuss challenges related to caring for individuals with PKs; individualized medical care plans tailored to meet the needs of those affected; physical therapy; counselling services; educational programs geared towards helping individuals learn necessary skills; respite care services providing temporary relief to families taking care of individuals afflicted by PKs; employment assistance programs designed to help those living with PKs find suitable work opportunities that fit their abilities etc.
Final Words:
Pallister Killian Syndrome is a rare disorder that can affect development in many different ways; however individuals living with this condition are still able to lead fulfilling lives through appropriate treatment and support services. With the right care it is possible for those affected by this condition to reach their full potential despite their physical or intellectual challenges.
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