About Sanjad-Sakati syndrome

What is Sanjad-Sakati syndrome?

Sanjad-Sakati syndrome is a rare genetic disorder characterized by intellectual disability, growth retardation, and hypoparathyroidism. It is caused by a mutation in the TBCE gene, which is responsible for the production of a protein involved in calcium regulation. Symptoms of the disorder include delayed development, seizures, hearing loss, and vision problems.

What are the symptoms of Sanjad-Sakati syndrome?

The most common symptoms of Sanjad-Sakati syndrome include:

-Delayed growth and development
-Intellectual disability
-Seizures
-Feeding difficulties
-Hearing loss
-Vision problems
-Abnormal facial features
-Abnormalities of the hands and feet
-Abnormalities of the heart and other organs
-Kidney problems
-Gastrointestinal problems
-Skin abnormalities

What are the causes of Sanjad-Sakati syndrome?

Sanjad-Sakati syndrome is a rare genetic disorder caused by mutations in the gene responsible for the production of the enzyme adenosine deaminase (ADA). Mutations in this gene lead to a deficiency of ADA, which is necessary for the normal development of the immune system. This deficiency can cause a variety of symptoms, including growth retardation, mental retardation, seizures, and immune system dysfunction.

What are the treatments for Sanjad-Sakati syndrome?

The treatments for Sanjad-Sakati syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage symptoms. Other treatments may include dietary modifications, vitamin and mineral supplements, and genetic counseling. Surgery may be recommended in some cases to correct physical abnormalities.

What are the risk factors for Sanjad-Sakati syndrome?

The primary risk factor for Sanjad-Sakati syndrome is having a family history of the disorder. Other risk factors include being of Middle Eastern descent, having a consanguineous (related) parents, and having a mother with diabetes during pregnancy.

Is there a cure/medications for Sanjad-Sakati syndrome?

At this time, there is no cure for Sanjad-Sakati syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to help control seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy can help improve motor skills and coordination.