Rare Disease Database

Synonyms

• Escobar syndrome
• Multiple pterygium syndrome nonlethal type
• Pterygium syndrome
• Multiple pterygium syndrome
• Pterygium colli syndrome
• Pterygium universale
• Autosomal recessive non-lethal multiple pterygium syndrome
• Escobar variant multiple pterygium syndrome
• EVMPS
• Autosomal recessive multiple pterygium syndrome

Overview

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).[1555][12608]  Mutations in the CHRNG gene cause most cases of this disorder. It tends to be inherited in an autosomal recessive fashion.[1555][1557] While there is still no cure for this disorder, treatment options will depend on the type and severity of symptoms.

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