About Teebi-Shaltout syndrome

What is Teebi-Shaltout syndrome?

Teebi-Shaltout syndrome is a rare genetic disorder characterized by intellectual disability, delayed development, and distinctive facial features. It is caused by a mutation in the GATA2 gene. Symptoms may include low muscle tone, seizures, hearing loss, and vision problems. Treatment is supportive and may include physical, occupational, and speech therapy.

What are the symptoms of Teebi-Shaltout syndrome?

The symptoms of Teebi-Shaltout syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Growth retardation
-Feeding difficulties
-Hearing loss
-Vision problems
-Heart defects
-Abnormalities of the hands and feet
-Kidney abnormalities
-Gastrointestinal problems
-Skin abnormalities
-Behavioral problems

What are the causes of Teebi-Shaltout syndrome?

Teebi-Shaltout syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). This enzyme is responsible for breaking down certain molecules in the body, and when it is not functioning properly, it can lead to a buildup of toxic substances in the body. This can cause a variety of symptoms, including intellectual disability, seizures, and movement disorders.

What are the treatments for Teebi-Shaltout syndrome?

Teebi-Shaltout syndrome is a rare genetic disorder, so there is no specific treatment for it. Treatment is usually focused on managing the symptoms and complications associated with the disorder. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Surgery may be recommended to correct physical deformities or to help improve mobility. Genetic counseling may also be recommended to help families understand the disorder and its implications.

What are the risk factors for Teebi-Shaltout syndrome?

The exact cause of Teebi-Shaltout syndrome is unknown, but some risk factors have been identified. These include:

• Family history of the condition
• Maternal age over 35
• Maternal diabetes
• Maternal obesity
• Maternal smoking
• Maternal alcohol consumption
• Maternal exposure to certain medications or toxins
• Maternal infection during pregnancy
• Advanced paternal age
• Advanced maternal age at the time of conception

Is there a cure/medications for Teebi-Shaltout syndrome?

At this time, there is no known cure or medications for Teebi-Shaltout syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help improve the quality of life for those affected.