Absence deformity of leg-cataract syndrome is a rare genetic disorder characterized by the absence of the lower leg bones, cataracts, and other eye abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. This disorder is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected. Symptoms may include short stature, joint contractures, and vision problems. Treatment is symptomatic and may include physical therapy, orthopedic surgery, and vision correction.

The symptoms of Absence deformity of leg-cataract syndrome include:

-Absence of the lower leg bones (tibia and fibula)
-Cataracts in both eyes
-Developmental delay
-Intellectual disability
-Seizures
-Hearing loss
-Feeding difficulties
-Growth retardation
-Joint contractures
-Scoliosis
-Abnormal gait
-Abnormal facial features
-Abnormalities of the hands and feet

Absence deformity of leg-cataract syndrome is caused by a genetic mutation in the PAX3 gene. This gene is responsible for the development of the skeletal muscles and the formation of the lower limbs. Mutations in this gene can lead to the absence of the lower limbs, as well as other deformities such as cataracts, scoliosis, and clubfoot.

The treatments for Absence deformity of leg-cataract syndrome vary depending on the severity of the condition. Generally, treatment may include physical therapy, orthopedic surgery, and/or medications to reduce pain and inflammation. Physical therapy can help improve range of motion, strength, and balance. Orthopedic surgery may be necessary to correct any deformities or to stabilize the joints. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation. In some cases, surgery may be necessary to correct the deformity.

1. Genetic predisposition: Absence deformity of leg-cataract syndrome is an inherited disorder, so individuals with a family history of the condition are at an increased risk of developing it.

2. Age: The condition is more common in older individuals, so those over the age of 40 are at an increased risk.

3. Gender: The condition is more common in males than females.

4. Exposure to certain environmental factors: Exposure to certain environmental factors, such as radiation, may increase the risk of developing the condition.

5. Certain medical conditions: Individuals with certain medical conditions, such as diabetes, may be at an increased risk of developing the condition.

At this time, there is no known cure for Absence deformity of leg-cataract syndrome. However, there are medications that can be used to manage the symptoms associated with the condition. These medications include anticonvulsants, muscle relaxants, and anti-inflammatory drugs. Additionally, physical therapy and occupational therapy can help to improve mobility and reduce pain.