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