KCNK9 Imprinting Syndrome synonyms

KCNK9 Imprinting Syndrome synonyms:

KCNK9 Imprinting Syndrome is a rare genetic disorder that is also known by several other names. These alternative names are used to describe the same condition and provide additional information about its characteristics and underlying genetic cause. Some of the synonyms for KCNK9 Imprinting Syndrome include:

• Temple Syndrome: This term is derived from the gene involved in the syndrome, KCNK9, and refers to the specific imprinting defect that leads to the disorder. It highlights the association with the Temple region of the brain, which is affected in individuals with this syndrome.


• Maternal Uniparental Disomy 14: This name emphasizes the genetic mechanism underlying the syndrome. It occurs when both copies of chromosome 14 are inherited from the mother, leading to an imbalance in gene expression and resulting in the characteristic features of KCNK9 Imprinting Syndrome.


• 14q32.2 Imprinting Center Defect: This term refers to the specific region on chromosome 14 where the imprinting defect occurs. It highlights the disruption in the normal regulation of gene expression in this region, leading to the syndrome.


• Hyperphagia-Hypotonia Syndrome: This name focuses on two prominent features of the syndrome. Hyperphagia refers to excessive appetite and overeating, while hypotonia refers to low muscle tone. These symptoms are commonly observed in individuals with KCNK9 Imprinting Syndrome.

It is important to note that while these names are used interchangeably, they all refer to the same genetic disorder characterized by developmental delays, intellectual disability, distinctive facial features, and other associated symptoms.