Pallister-Killian Syndrome
Description
Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by a distinctive set of features. It is caused by a duplication of a small part of chromosome 12, leading to a variety of physical and developmental challenges. This blog post will provide a comprehensive overview of PKS, covering its causes, symptoms, diagnosis, management, and resources for families.
Genes Involved
PKS is caused by a duplication of a small part of chromosome 12, specifically the region containing the gene PKS1. This duplication is known as tetrasomy 12p.
Recognizing the Signs and Symptoms
Individuals with PKS may exhibit a range of symptoms, including:
- Distinctive Facial Features: Broad forehead, widely spaced eyes (hypertelorism), and a flattened bridge of the nose.
- Developmental Delays: Cognitive impairment, speech and language difficulties, and motor delays.
- Physical Characteristics: Short stature, small hands and feet, and skeletal abnormalities.
- Skin Abnormalities: Skin tags, moles, and areas of thickened skin.
- Other Potential Issues: Heart defects, seizures, feeding difficulties, and hearing loss.
The severity of symptoms can vary widely between individuals with PKS.
Causes
The duplication of the 12p chromosome region is a random event that occurs during the formation of eggs or sperm. This duplication is not inherited from parents. There are no known risk factors associated with the development of PKS.
Inheritance/recurrence risk
PKS is not an inherited condition. Since the duplication of chromosome 12p happens randomly during the development of egg or sperm cells, it is not passed down from parents to children. The chances of another child having PKS is very low unless there is a known genetic predisposition in the family.
