Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic disorder characterized by webbing of the skin between the back of the knee and the ankle (popliteal pterygium), as well as other physical abnormalities. It is caused by a mutation in the TBX4 gene and is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder. Symptoms may include webbing of the skin between the back of the knee and the ankle, cleft lip and/or palate, extra fingers or toes, and/or other physical abnormalities. Treatment is based on the individual's symptoms and may include surgery to correct physical abnormalities, speech therapy, and/or physical therapy.

The most common symptoms of Autosomal dominant popliteal pterygium syndrome (ADPPS) include:

-Webbing of the skin between the back of the knee and the ankle (popliteal pterygium)

-Abnormalities of the fingers and toes, including extra digits (polydactyly)

-Cleft palate

-Cleft lip

-Abnormalities of the eyes, including drooping of the upper eyelids (ptosis)

-Abnormalities of the ears, including small or absent earlobes

-Abnormalities of the teeth, including missing teeth

-Abnormalities of the spine, including scoliosis

-Abnormalities of the hands and feet, including syndactyly (webbing of the fingers

Autosomal dominant popliteal pterygium syndrome (ADPPS) is a rare genetic disorder caused by a mutation in the TBX4 gene. This gene is responsible for the development of certain structures in the body, including the skin, muscles, and bones. The mutation in the TBX4 gene causes the skin to become thickened and fused together in the back of the knee, forming a web-like structure called a pterygium. This can lead to a range of physical and developmental problems, including joint contractures, scoliosis, and intellectual disability.

The treatments for Autosomal dominant popliteal pterygium syndrome (ADPPS) vary depending on the severity of the condition. Generally, treatment focuses on managing the symptoms and preventing complications. This may include physical therapy, occupational therapy, and orthopedic surgery to correct joint contractures. Other treatments may include splinting, bracing, and casting to help maintain joint mobility. In some cases, surgery may be necessary to correct the webbing of the skin. In addition, genetic counseling may be recommended for individuals with ADPPS and their families.

1. Genetic mutation: Autosomal dominant popliteal pterygium syndrome is caused by a mutation in the TWIST1 gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Age: The disorder is more common in children and young adults.

4. Gender: Autosomal dominant popliteal pterygium syndrome is more common in males than females.

At this time, there is no cure for Autosomal dominant popliteal pterygium syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to reduce pain, muscle relaxants, and physical therapy. Additionally, surgery may be recommended to correct any physical deformities caused by the condition.