Popliteal pterygium

Popliteal Pterygium Syndrome (PPS) is a rare, complex genetic disorder characterized by specific malformations of the skin, muscles, and bones. The syndrome is named after the popliteal region (the area behind the knee) where a skin webbing, or pterygium, often forms.

Symptoms and Signs

The most common symptom of Popliteal Pterygium Syndrome is the presence of a skin web (pterygium) in the popliteal region. Other symptoms can include oral clefts (cleft lip/palate), syndactyly (fusion of fingers or toes), cryptorchidism (undescended testicles), and anomalies of the external genitalia. Some individuals may also have anophthalmia (absence of one or both eyes) or microphthalmia (abnormally small eyes).

Causes

Popliteal Pterygium Syndrome is caused by mutations in the IRF6 gene. This gene provides instructions for making a protein that plays a crucial role in the development of skin and tissues that form the head and face. Mutations in the IRF6 gene disrupt the normal development of these tissues, leading to the characteristic features of PPS.

Diagnosis

Diagnosis of Popliteal Pterygium Syndrome is typically based on the presence of the characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the IRF6 gene.

Treatment

Treatment for Popliteal Pterygium Syndrome is symptomatic and supportive. Surgery may be necessary to correct cleft lip/palate, syndactyly, or genital abnormalities. Physical therapy may be beneficial for individuals with mobility issues due to the popliteal pterygium.

Prognosis

The prognosis for individuals with Popliteal Pterygium Syndrome varies. Some individuals may have mild symptoms and normal life expectancy, while others may experience severe complications and physical limitations.

See Also

• Genetic Disorders
• Cleft Lip and Palate
• Syndactyly
• Cryptorchidism
• Anophthalmia
• Microphthalmia