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:
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.