Multiple pterygium syndrome Escobar type


Type of disease: Rare conditions

Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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