Multiple pterygium syndromes comprise a group of multiple autosomal recessive congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (ARTHROGRYPOSIS). They are traditionally divided into prenatally lethal type (OMIM: 253290), caused by mutations in the CHRNA1, CHRND, and CHRNG genes and characterized by more severe anomalies, malignant hyperthermia, and death in utero or shortly after birth. The non-lethal (Escobar) type is milder and caused by mutations in the CHRNG gene. OMIM: 265000
Also Known As:
Escobar syndrome; Familial Pterygium Syndrome; Lethal multiple pterygium syndrome; Multiple Pterygium Syndrome, Escobar Variant; Multiple Pterygium Syndrome, Lethal Type; Multiple Pterygium Syndrome, Nonlethal Type; Multiple pterygium syndrome lethal type; Pterygium Multiple syndrome, lethal type; Pterygium Syndrome, Multiple, Lethal Type; Pterygium colli syndrome; Pterygium syndrome; Pterygium syndrome, multiple; Pterygium universale