Turner Kieser Syndrome is a rare genetic disorder that primarily affects the development of the skeletal system. It is characterized by various physical abnormalities and developmental delays. The syndrome is typically caused by the deletion or mutation of certain genes on the X chromosome.
Individuals with Turner Kieser Syndrome often display short stature, with final height falling significantly below the average range. They may also have skeletal deformities, such as a curved spine (scoliosis) or abnormal bone development. These skeletal abnormalities can lead to mobility issues or limitations in movement. Moreover, delayed bone age is commonly observed in affected individuals.
In addition to the skeletal manifestations, Turner Kieser Syndrome may involve developmental delays and intellectual disabilities. Language and speech may be severely affected, resulting in delayed or impaired communication skills. Individuals with this syndrome may require additional support and intervention to improve their language abilities.
Other characteristics associated with Turner Kieser Syndrome include distinctive facial features, such as a small chin, widely spaced eyes, and low-set ears. Some individuals may also have heart defects, kidney abnormalities, or be more susceptible to recurrent infections.
Given its rarity, the exact prevalence of Turner Kieser Syndrome is currently unknown, and there is limited information available on its long-term prognosis. Treatment mainly involves managing the individual symptoms and providing appropriate therapies and interventions to maximize the affected individual's potential.
