Escobar syndrome

Escobar syndrome (also known as Multiple pterygium syndrome) is a rare genetic disorder characterized by a range of physical abnormalities. The syndrome is named after the Colombian physician, Victor A. McKusick, who first described the condition in 1978.

Symptoms and Signs

The primary symptoms of Escobar syndrome include pterygium, which are web-like formations of skin that occur in the armpits, neck, and knees. Other symptoms can include contractures (permanent shortening of a muscle or joint), craniofacial abnormalities, vertebral anomalies, and respiratory distress. The severity and range of symptoms can vary widely among individuals with the syndrome.

Causes

Escobar syndrome is caused by mutations in the gene known as CHRNG. This gene provides instructions for making a component of a protein complex that plays a critical role in the development of muscles. The mutations disrupt the normal function of this protein complex, leading to the physical abnormalities seen in Escobar syndrome.

Diagnosis

Diagnosis of Escobar syndrome is typically based on the presence of characteristic physical abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the CHRNG gene.

Treatment

There is currently no cure for Escobar syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgery to correct contractures and pterygium, and respiratory support in severe cases.

Prognosis

The prognosis for individuals with Escobar syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan with mild physical limitations, while others may experience severe respiratory distress and other complications that can be life-threatening.

See also

• Genetic disorder
• Pterygium
• Contracture
• CHRNG

NIH genetic and rare disease info

• NIH info on Escobar syndrome

Escobar syndrome is a rare disease.

Escobar syndrome Resources
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