Sakati Syndrome is a rare genetic disorder characterized by short stature, intellectual disability, and distinctive facial features. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Sakati Syndrome include short stature, delayed development, distinctive facial features, and intellectual disability. Other features may include seizures, hearing loss, and skeletal abnormalities. Treatment is supportive and may include physical and occupational therapy, speech therapy, and medications to control seizures.

The primary symptoms of Sakati Syndrome include short stature, delayed bone age, delayed puberty, intellectual disability, and facial dysmorphism. Other symptoms may include skeletal abnormalities, hearing loss, vision problems, and cardiac defects.

Sakati Syndrome is a rare genetic disorder caused by a mutation in the SLC25A24 gene. This gene is responsible for the production of a protein called cytochrome c oxidase (COX) which is essential for the normal functioning of mitochondria. Mutations in this gene can lead to a decrease in the production of COX, resulting in a variety of symptoms including intellectual disability, growth retardation, facial dysmorphism, and skeletal abnormalities.

The treatment for Sakati Syndrome is focused on managing the symptoms and complications associated with the condition. Treatment may include physical therapy, occupational therapy, speech therapy, medications to control seizures, and surgery to correct any physical deformities. Additionally, a healthy diet and lifestyle can help to improve overall health and well-being.

The primary risk factor for Sakati Syndrome is a family history of the disorder. Other risk factors include consanguinity (being related to another person through blood or marriage) and certain ethnic backgrounds, such as Middle Eastern, North African, and South Asian.

At this time, there is no cure for Sakati Syndrome. However, medications can be used to help manage the symptoms. These medications may include anticonvulsants, muscle relaxants, and anti-inflammatory drugs. Additionally, physical and occupational therapy can help improve mobility and reduce pain.