Amish, Mennonite, and Hutterite
Genetic Disorder Database

Pfeiffer syndrome

Disorder
OMIM #: #101600  (Click to access OMIM database)
Disorder: Pfeiffer syndrome 
Also known as: ACROCEPHALOSYNDACTYLY, TYPE V
ACS5 ACS V NOACK SYNDROME 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: FGFR2
Base Change: T>C, at nucleotide 799
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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