This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Multiple pterygium syndrome, Escobar type is characterized by webbing of skin (pterygium) and a lack of muscle movement (akinesia) that occur before birth. The pterygium typically affect the neck, fingers, elbows, and/or knees. Individuals with multiple pterygium syndrome, Escobar type may also develop a restriction of the joints, known as arthrogryposis, a sideways curve of the spine (scoliosis), and distinctive facial features. Males with this condition can have undescended testes (cryptorchidism). Mutations in the CHRNG gene cause most cases of this disorder. It tends to be inherited in an autosomal recessive fashion. While there is still no cure for this disorder, treatment options will depend on the type and severity of symptoms.
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