National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Multiple pterygium syndrome Escobar type

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I would like to learn more about multiple pterygium syndrome, Escobar type. How is this condition treated? What are the risks and benefits of back surgery?

The following information may help to address your question:


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.[1]
Last updated: 11/16/2016

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: 11/16/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Pterygium Syndrome, Multiple. NORD. 2004; https://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/. Accessed 11/16/2016.
  2. Multiple pterygium syndrome, Escobar variant. Online Mendelian Inheritance in Man. 7/9/2016; http://www.omim.org/entry/265000. Accessed 11/16/2016.