KBG Syndrome synonyms

KBG Syndrome, also known as Kabuki syndrome, is a rare genetic disorder that affects multiple parts of the body. It is characterized by distinct facial features, developmental delays, intellectual disabilities, and various physical abnormalities.

Individuals with KBG Syndrome often have long palpebral fissures (wide-set eyes with arched eyebrows), a depressed nasal tip, and prominent ears. These facial characteristics are reminiscent of the traditional makeup worn by actors in Kabuki theater, hence the name Kabuki syndrome.

Aside from the facial features, individuals with KBG Syndrome may experience growth delays and skeletal abnormalities. They may have short stature, small hands and feet, and joint hypermobility. Additionally, some individuals may have heart defects or kidney abnormalities.

The neurological aspects of KBG Syndrome can vary widely. Many individuals have developmental delays and intellectual disabilities. They may also exhibit speech and language delays. However, some individuals with KBG Syndrome have normal intelligence or only mild intellectual impairments.

Diagnosing KBG Syndrome can be challenging due to its rarity and the variability of symptoms. Genetic testing can help identify mutations in the ANRIL and KMT2D genes, which are associated with the syndrome.

Treatment for KBG Syndrome is focused on managing the individual's specific symptoms and needs. This may involve early intervention programs to address developmental delays, speech therapy, physical therapy, and educational support. Regular monitoring of heart and kidney function is also important.

Supportive care from healthcare professionals, genetic counselors, and support groups can greatly benefit individuals with KBG Syndrome and their families. It is essential to provide a nurturing and inclusive environment that promotes the individual's overall well-being and quality of life.