Tonoki syndrome is a rare genetic disorder that affects the growth and development of the individual. It is inherited in an X-linked pattern. The symptoms predominantly occur in males. Female carriers may possess mild signs of the condition. Each female has two X chromosomes, one from each parent. Males inherit one X chromosome from mom and one Y chromosome from dad. If a male inherits an X chromosome with the changed (mutated) gene, he will have this condition. A female with the changed gene on one X chromosome may have mild symptoms.
Symptoms of Tonoki syndrome include short stature (height), a smaller head than others, skeletal abnormalities, and dwarfism. Individuals have shorter fingers and toes than expected (brachydactyly). The ends of the second and fifth fingers are not fully developed. Often there is unusual development of the nails (nail dysplasia), or the nails fail to grow. In addition, skin between the fingers may be webbed, or the joints may be fused. The individual with Tonoki syndrome may have intellectual disability. If you or a family member has been diagnosed with Tonoki syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 13, 2018