About Tatton-Brown-Rahman syndrome

What is Tatton-Brown-Rahman syndrome?

Tatton-Brown-Rahman syndrome (TBRS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. It is caused by a mutation in the gene encoding the transcription factor TBX6. Symptoms may include delayed development, intellectual disability, distinctive facial features, and skeletal abnormalities such as scoliosis, kyphosis, and joint contractures. Treatment is supportive and may include physical and occupational therapy, speech therapy, and medications to manage symptoms.

What are the symptoms of Tatton-Brown-Rahman syndrome?

The symptoms of Tatton-Brown-Rahman syndrome (TBRS) vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Cleft lip and/or palate
-Abnormalities of the hands and feet
-Skeletal abnormalities
-Gastrointestinal problems
-Skin abnormalities
-Behavioral problems

What are the causes of Tatton-Brown-Rahman syndrome?

Tatton-Brown-Rahman syndrome is a rare genetic disorder caused by a mutation in the TBR1 gene. This gene is responsible for the production of a protein that helps regulate the development of the brain and nervous system. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.

What are the treatments for Tatton-Brown-Rahman syndrome?

Treatments for Tatton-Brown-Rahman syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and/or medications to help manage symptoms. Surgery may be necessary to correct any physical deformities or to help improve mobility. In some cases, genetic counseling may be recommended.

What are the risk factors for Tatton-Brown-Rahman syndrome?

The exact cause of Tatton-Brown-Rahman syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for the syndrome include having a family history of the disorder, being of Ashkenazi Jewish descent, and being a male.

Is there a cure/medications for Tatton-Brown-Rahman syndrome?

At this time, there is no known cure for Tatton-Brown-Rahman 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 mobility and quality of life.