MeSH Browser

MeSH Supplementary: Multiple pterygium syndrome
Unique ID: C537377
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537377
Entry Term(s): 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
Registry Number: 0
Heading Mapped to: *Abnormalities, Multiple; *Malignant Hyperthermia; *Skin Abnormalities
Frequency: 61
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Multiple pterygium syndrome MeSH Supplementary Concept Data 2024