Amish, Mennonite, and Hutterite
Genetic Disorder Database

Multiple pterygium syndrome, Escobar variant

Disorder
OMIM #: #265000  (Click to access OMIM database)
Disorder: Multiple pterygium syndrome, Escobar variant 
Also known as: ESCOBAR SYNDROME MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE PTERYGIUM SYNDROME MULTIPLE PTERYGIUM SYNDROME PTERYGIUM COLLI SYNDROME PTERYGIUM UNIVERSALE  
Clinical
Phenotype: webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CHRNG
Base Change: c.459_460insA
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

Back