About De Barsy Syndrome

What is De Barsy Syndrome?

De Barsy Syndrome is a rare genetic disorder that affects the connective tissue in the body. It is characterized by a variety of symptoms, including joint laxity, skeletal abnormalities, facial dysmorphism, and intellectual disability. It is caused by a mutation in the FKBP10 gene.

What are the symptoms of De Barsy Syndrome?

The most common symptoms of De Barsy Syndrome include:

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

What are the causes of De Barsy Syndrome?

De Barsy Syndrome is a rare genetic disorder caused by a mutation in the LBR gene. This gene is responsible for producing the lamin B receptor protein, which is essential for the proper functioning of the cell nucleus. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

What are the treatments for De Barsy Syndrome?

The treatments for De Barsy Syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and vision therapy. In some cases, surgery may be necessary to correct physical deformities. Additionally, medications may be prescribed to help manage symptoms such as seizures, muscle spasms, and sleep disturbances.

What are the risk factors for De Barsy Syndrome?

The exact cause of De Barsy Syndrome is unknown, but it is believed to be an inherited disorder. Risk factors for De Barsy Syndrome include having a family history of the disorder, being of Ashkenazi Jewish descent, and having a mutation in the LBR gene.

Is there a cure/medications for De Barsy Syndrome?

At this time, there is no cure for De Barsy Syndrome. Treatment focuses on managing the symptoms, which may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms.