Amish, Mennonite, and Hutterite
Genetic Disorder Database

Apert syndrome

Disorder
OMIM #: #101200  (Click to access OMIM database)
Disorder: Apert syndrome 
Also known as: ACROCEPHALOSYNDACTYLY, TYPE I
ACS1 ACS I  
Clinical
Phenotype: craniosynostosis, midface hypoplasia, syndactyly of the hands and feet 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: FGFR2
Base Change: C>G, at nucleotide 758
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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