ALDH18A1-related De Barsy syndrome is a rare genetic disorder caused by mutations in the ALDH18A1 gene. It is characterized by a distinctive facial appearance, intellectual disability, growth delays, and vision and hearing problems. People with this condition may also have skeletal abnormalities, including joint contractures, scoliosis, and abnormal curvature of the spine.

The symptoms of ALDH18A1-related De Barsy syndrome can vary from person to person, but the most common symptoms include:

• Severe intellectual disability

• Poor muscle tone (hypotonia)
• Seizures
• Abnormal facial features, including a prominent forehead, wide-set eyes, a short nose, and a small chin
• Poor growth
• Vision and hearing problems
• Skin abnormalities, such as Thickened skin on the palms and soles of the feet
• Joint contractures, which can cause limited movement in the joints
• Abnormalities of the heart, kidneys, and other organs

ALDH18A1-related De Barsy syndrome is caused by mutations in the ALDH18A1 gene. This gene provides instructions for making an enzyme called alkylglycerone phosphate synthase (AGPS). AGPS is involved in the production of a molecule called alkylglycerone phosphate, which is essential for the formation of certain fats (lipids) in the body. Mutations in the ALDH18A1 gene lead to a decrease in AGPS activity, which disrupts the production of alkylglycerone phosphate and causes the signs and symptoms of De Barsy syndrome.

The treatments for ALDH18A1-related De Barsy syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and preventing complications. This may include physical therapy, occupational therapy, speech therapy, and vision therapy. In some cases, medications may be prescribed to help manage seizures, muscle spasms, and other symptoms. Surgery may be recommended to correct certain physical deformities. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation in the ALDH18A1 gene.
2. Family history of De Barsy syndrome.
3. Exposure to certain environmental toxins.
4. Maternal alcohol consumption during pregnancy.
5. Maternal use of certain medications during pregnancy.
6. Advanced maternal age.

At this time, there is no known cure or medications for ALDH18A1-related De Barsy syndrome. Treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies.