Temple-Baraitser syndrome

Temple-Baraitser syndrome is a rare developmental condition that affects multiple parts of the body. People with this condition usually experience severe intellectual disability and global developmental delays. They also have significant differences in the development of their fingers and toes, especially the thumbs and the big toes (hallux). These differences include underdeveloped or absent nails and changes in the distal parts of the digits. In addition to limb differences, individuals may exhibit unique facial features. Reported characteristics include a high or low hairline sometimes with a cowlick, a flat forehead, and various differences in the appearance of the eyes, nose, and lips. Other common features include low muscle tone (hypotonia) and seizures. This combination of features helps doctors recognize the syndrome and differentiate it from other developmental disorders.

The symptoms of Temple-Baraitser syndrome are wide-ranging. Common signs include severe intellectual disability, global developmental delays, and hypotonia. Seizures have been reported in many cases. There are also distinctive differences in the appearance of the fingers and toes, such as abnormally formed or missing nails and underdeveloped digits. Facial features may show a high or low hairline, unique eye and nose shapes, and a broad mouth with a thick border on the lips. These features together create a recognizable pattern that helps in identifying the condition.

Temple-Baraitser syndrome is associated with genetic changes in the KCNH1 gene. Changes in this gene appear to affect the normal development of the brain, limbs, and other body parts during growth. While the exact way these genetic changes lead to the specific signs and symptoms is not yet fully understood, studies have linked mutations in this gene to the disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.