Absent tibia-polydactyly-arachnoid cyst syndrome is a rare genetic disorder characterized by the absence of the tibia bone in the lower leg, extra fingers or toes (polydactyly), and the presence of an arachnoid cyst in the brain. It is caused by a mutation in the HOXD13 gene. Symptoms may include limb deformities, intellectual disability, seizures, and vision and hearing problems. Treatment typically involves physical and occupational therapy, medications, and surgery.

The symptoms of Absent tibia-polydactyly-arachnoid cyst syndrome vary from person to person, but may include:

-Absent tibia (missing lower leg bone)
-Polydactyly (extra fingers or toes)
-Arachnoid cyst (fluid-filled sac on the brain or spinal cord)
-Developmental delay
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Feeding difficulties
-Growth delays
-Joint contractures
-Scoliosis
-Abnormalities of the heart, kidneys, and other organs

Absent tibia-polydactyly-arachnoid cyst syndrome is a rare genetic disorder caused by a mutation in the HOXD13 gene. This gene is responsible for the development of the lower limbs, and when it is mutated, it can lead to the development of extra fingers and toes (polydactyly), the absence of the tibia bone in the lower leg, and the formation of an arachnoid cyst in the brain.

There is no known cure for Absent tibia-polydactyly-arachnoid cyst syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy to help with mobility, orthopedic surgery to correct any skeletal deformities, and medications to help manage pain. In some cases, surgery may be necessary to remove the arachnoid cyst. Additionally, genetic counseling may be recommended for families affected by the condition.

The exact cause of Absent tibia-polydactyly-arachnoid cyst syndrome is unknown. However, some risk factors may include:

• Genetic mutations: Mutations in the HOXD13 gene have been linked to this condition.

• Family history: A family history of Absent tibia-polydactyly-arachnoid cyst syndrome may increase the risk of developing the condition.

• Environmental factors: Exposure to certain environmental toxins or radiation may increase the risk of developing Absent tibia-polydactyly-arachnoid cyst syndrome.

At this time, there is no known cure for Absent tibia-polydactyly-arachnoid cyst syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, orthopedic surgery, and medications to control seizures or pain.