KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.
KBG syndrome is caused by mutations in the ANKRD11 gene. The protein produced from this gene enables other proteins to interact with each other and helps control gene activity. The ANKRD11 protein is found in nerve cells (neurons) in the brain. It plays a role in the proper development of the brain and may be involved in the ability of neurons to change and adapt over time (plasticity), which is important for learning and memory. ANKRD11 may function in other cells in the body and appears to be involved in normal bone development.
KBG syndrome is a rare disorder that has been reported in more than 150 individuals in the medical literature, though there are likely more who have not been recorded in the literature. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed to other disorders.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Karen Low practices in Bristol, United Kingdom. Low is rated as an Elite expert by MediFind in the treatment of KBG Syndrome. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are KBG Syndrome, Rommen Mueller Sybert Syndrome, Brachydactyly, and Short Stature (Growth Disorders).
Tjitske Kleefstra practices in Nijmegen, Netherlands. Kleefstra is rated as an Elite expert by MediFind in the treatment of KBG Syndrome. They are also highly rated in 32 other conditions, according to our data. Their top areas of expertise are KBG Syndrome, Hypotonia, Autism Spectrum Disorder, and Short Stature (Growth Disorders).
Charlotte Ockeloen practices in Nijmegen, Netherlands. Ockeloen is rated as an Elite expert by MediFind in the treatment of KBG Syndrome. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are KBG Syndrome, Hypotonia, Split Hand Foot Malformation, and Coffin-Siris Syndrome.
Published Date: January 01, 2018Published By: National Institutes of Health