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Multiple pterygium syndrome [Supplementary Concept]

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

Date introduced: August 25, 2010

MeSH Unique ID: C537377

Heading Mapped to:

Entry Terms:

  • Escobar syndrome
  • Pterygium universale
  • Familial Pterygium Syndrome
  • Pterygium syndrome, multiple
  • Multiple Pterygium Syndrome, Escobar Variant
  • Multiple Pterygium Syndrome, Nonlethal Type
  • Pterygium colli syndrome
  • Pterygium syndrome
  • Multiple pterygium syndrome lethal type
  • Pterygium Syndrome, Multiple, Lethal Type
  • Multiple Pterygium Syndrome, Lethal Type
  • Pterygium Multiple syndrome, lethal type
  • Lethal multiple pterygium syndrome

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