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How do I know if I have Autosomal recessive multiple pterygium syndrome / Escobar syndrome?

What signs or symptoms may make you suspect you may have Autosomal recessive multiple pterygium syndrome / Escobar syndrome. People who have experience in Autosomal recessive multiple pterygium syndrome / Escobar syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have 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, and various other physical abnormalities. It is caused by mutations in the CHRNG gene, which is responsible for producing a protein involved in the development and function of the neuromuscular junction.



If you suspect that you or someone you know may have Autosomal recessive multiple pterygium syndrome / Escobar syndrome, it is important to consult with a healthcare professional for a proper diagnosis. The following signs and symptoms are commonly associated with this condition:




  • Joint contractures: Individuals with this syndrome often have multiple joint contractures, which restrict the range of motion in various joints of the body. These contractures can affect the elbows, knees, hips, and other joints.

  • Skin webbing: Another characteristic feature is the presence of webbing or excess skin between the joints, particularly in the neck, elbows, and knees. This can give the appearance of "pterygium," which refers to the wing-like shape of the skin.

  • Facial abnormalities: Some individuals may exhibit distinctive facial features, such as a small mouth, a short or upturned nose, and a small chin.

  • Clubfoot: Clubfoot, a condition in which the foot is twisted or turned inward, is commonly seen in individuals with Autosomal recessive multiple pterygium syndrome.

  • Other physical abnormalities: Additional physical abnormalities may include scoliosis (curvature of the spine), cleft palate, undescended testicles in males, and heart defects.



It is important to note that the presence of these signs and symptoms does not necessarily confirm the diagnosis of Autosomal recessive multiple pterygium syndrome / Escobar syndrome. Genetic testing is typically required to identify the specific mutation in the CHRNG gene and confirm the diagnosis.



If you suspect that you or your child may have Autosomal recessive multiple pterygium syndrome / Escobar syndrome, it is recommended to seek medical advice. A healthcare professional, such as a geneticist or a pediatrician, can evaluate the symptoms, conduct genetic testing, and provide appropriate guidance and support.


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