Multiple pterygium syndrome Escobar type

What causes multiple pterygium syndrome, Escobar type?

Most cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. The CHRNG gene provides instructions for part of the acetylcholine receptor (AChR) protein. The AChR protein is found in skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement.

Mutations in other genes have been identified that cause multiple pterygium syndrome, Escobar type. Some people with this condition do not have an identified mutation in any of the known associated genes associated with this condition. The cause of the condition in these individuals is unknown.

Last updated on 05-01-20

How is multiple pterygium syndrome, Escobar type diagnosed?

Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms. Symptoms that may raise the suspicion of this diagnosis include: multiple pterygium, joint contractures present from birth, characteristic facial features, and other congenital anomalies such as undescended testicles (cryptorchidism). Genetic testing may be used to confirm the diagnosis.

Last updated on 05-01-20

How can I learn more about surgical options?

Surgical options available and the risks and benefits of said options vary depending on the signs and symptoms present in each individual. We recommend that you speak with your child's healthcare providers and specialists to learn more about his or her surgical options.

Last updated on 05-01-20

How is multiple pterygium syndrome, Escobar type treated?

There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. Physical therapy is important to help minimize contractures. When ptosis (droopy eyelids) is present, the individual should be referred to ophthalmology. Individuals should also be referred to audiology due to the risk of conductive hearing loss.

Last updated on 05-01-20

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