Pterygium syndrome, multiple

Pterygium Syndrome, Multiple is a rare genetic disorder characterized by the presence of multiple pterygia (webs) across various joints of the body. This condition is also associated with a range of other physical anomalies and developmental issues. The syndrome is part of a group of disorders known as the Escobar Syndrome or Multiple Pterygium Syndrome (MPS), which can vary in severity and manifestation.

Symptoms and Characteristics

The hallmark feature of Multiple Pterygium Syndrome is the development of pterygia, which are web-like skin folds, across several joints, including the neck (cervical pterygium), elbows, knees, and ankles. These webs can restrict movement and lead to joint deformities or contractures. Other common characteristics of the syndrome include:

• Craniofacial anomalies, such as a high-arched palate, cleft lip and/or palate, and hypertelorism (widely spaced eyes).
• Skeletal abnormalities, including scoliosis (curvature of the spine), fused vertebrae, and hip dysplasia.
• Cardiac anomalies, which may involve structural heart defects.
• Growth retardation, leading to short stature.
• Genitourinary anomalies, including cryptorchidism in males.

Causes

Multiple Pterygium Syndrome is primarily inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The condition has been linked to mutations in several genes, including the CHRNA1, CHRNG, and CHRND genes, which are involved in the development and function of the neuromuscular junction.

Diagnosis

Diagnosis of Multiple Pterygium Syndrome is based on the clinical presentation and physical findings. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. Prenatal diagnosis is possible through ultrasound findings of fetal pterygia and other anomalies.

Treatment

There is no cure for Multiple Pterygium Syndrome, and treatment focuses on managing symptoms and improving quality of life. Surgical interventions may be necessary to release joint contractures and correct skeletal deformities. Physical and occupational therapy can help improve mobility and daily functioning. Cardiac and other organ anomalies may require specific medical or surgical management.

Prognosis

The prognosis for individuals with Multiple Pterygium Syndrome varies depending on the severity of the symptoms and associated anomalies. Early intervention and comprehensive care can improve outcomes and quality of life.