What is the history of Autosomal recessive multiple pterygium syndrome / Escobar syndrome?

Autosomal recessive multiple pterygium syndrome, also known as Escobar syndrome, is a rare genetic disorder characterized by multiple joint contractures (pterygia), webbing of the skin (cutaneous syndactyly), and other distinctive features. This condition was first described by Victor Escobar in 1978, hence the name Escobar syndrome.

Genetic Basis:

Autosomal recessive multiple pterygium syndrome is caused by mutations in the CHRNG gene, which is located on chromosome 2. This gene provides instructions for making a protein called the gamma subunit of the acetylcholine receptor. This receptor is involved in transmitting signals between nerve cells and muscle cells. Mutations in the CHRNG gene disrupt the normal functioning of the acetylcholine receptor, leading to the characteristic features of the syndrome.

Clinical Features:

Individuals with autosomal recessive multiple pterygium syndrome typically present with multiple joint contractures, which restrict the movement of affected joints. The joints most commonly affected include the elbows, knees, and fingers. The contractures can be severe and may lead to functional impairment.

In addition to joint contractures, individuals with Escobar syndrome often have webbing of the skin between their fingers and toes (cutaneous syndactyly). This can vary in severity, ranging from mild fusion of the skin to complete fusion of the digits. The syndactyly can affect both the hands and feet.

Other features commonly seen in individuals with Escobar syndrome include a short neck, a small mouth (microstomia), a small jaw (micrognathia), and a cleft palate. Some individuals may also have scoliosis (curvature of the spine), hip dislocation, or clubfoot.

Diagnosis:

The diagnosis of autosomal recessive multiple pterygium syndrome is based on the clinical features observed in the affected individual. Genetic testing can be performed to confirm the diagnosis by identifying mutations in the CHRNG gene.

Treatment and Management:

There is currently no cure for autosomal recessive multiple pterygium syndrome. Treatment is focused on managing the symptoms and improving the quality of life for affected individuals.

Physical therapy and occupational therapy are important components of the management plan. These therapies aim to improve joint mobility, strengthen muscles, and enhance functional abilities. Orthopedic interventions, such as surgical release of contractures or correction of skeletal deformities, may be necessary in some cases.

Individuals with Escobar syndrome may also require specialized medical care to address specific complications. For example, feeding difficulties due to microstomia and cleft palate may require intervention from a speech therapist or a feeding specialist. Regular monitoring and management of scoliosis, hip dislocation, and other associated conditions are also important.

Prognosis:

The prognosis for individuals with autosomal recessive multiple pterygium syndrome varies depending on the severity of the symptoms and the presence of associated complications. With appropriate management and support, many individuals can lead fulfilling lives. However, the condition is typically chronic and may require ongoing medical care and interventions.

Conclusion:

Autosomal recessive multiple pterygium syndrome, or Escobar syndrome, is a rare genetic disorder characterized by multiple joint contractures, cutaneous syndactyly, and other distinctive features. It is caused by mutations in the CHRNG gene. Although there is no cure, management strategies can help improve the quality of life for affected individuals. Ongoing medical care and support are essential for individuals with this condition.