Sakati–Nyhan–Tisdale syndrome

Sakati–Nyhan–Tisdale syndrome is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome was first described by Nadia Sakati, William Nyhan, and William Tisdale in 1971.

Symptoms and Signs

The symptoms of Sakati–Nyhan–Tisdale syndrome can vary greatly from person to person. However, common symptoms include microcephaly (small head size), micrognathia (small jaw), cleft palate, low-set ears, short stature, and intellectual disability. Some individuals may also have heart defects, kidney abnormalities, and skeletal abnormalities.

Causes

Sakati–Nyhan–Tisdale syndrome is caused by mutations in the genes that are involved in the development of various parts of the body. The exact genes involved are currently unknown. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

The diagnosis of Sakati–Nyhan–Tisdale syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Sakati–Nyhan–Tisdale syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Surgery may be required for certain physical abnormalities.

Prognosis

The prognosis for individuals with Sakati–Nyhan–Tisdale syndrome varies depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may have life-threatening complications.

See Also

• List of genetic disorders
• List of rare diseases

External Links

• Orphanet: Sakati–Nyhan–Tisdale syndrome

Sakati–Nyhan–Tisdale syndrome Resources
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