Sakati syndrome
Sakati Syndrome, also known as Acrocephalopolysyndactyly Type III or Noonan Syndrome 3, is a rare genetic disorder characterized by a combination of medical and physical abnormalities. The syndrome was first described by Nadira Sakati, a Saudi Arabian pediatrician, and her colleagues in 1980.
Symptoms and Signs[edit | edit source]
The symptoms of Sakati Syndrome vary among affected individuals. However, common features include craniosynostosis, a condition in which the sutures in the skull of an infant close too early, leading to an abnormally shaped head. Other features include hearing loss, intellectual disability, and distinctive facial features such as a high forehead, a short nose with a broad tip, and low-set ears. Affected individuals may also have syndactyly, a condition where two or more fingers or toes are fused together.
Causes[edit | edit source]
Sakati Syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. It is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis[edit | edit source]
Diagnosis of Sakati Syndrome is based on a clinical evaluation, a detailed patient history, and a variety of specialized tests. These tests may include genetic testing, which can identify mutations in the genes associated with the syndrome. However, in some cases, a diagnosis may be made based on the presence of characteristic physical findings and symptoms.
Treatment[edit | edit source]
There is currently no cure for Sakati Syndrome. Treatment is symptomatic and supportive, and may include surgery to correct craniosynostosis and syndactyly. Other treatments may include physical therapy, speech therapy, and educational services to help individuals with the syndrome reach their full potential.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Sakati syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
