Amish, Mennonite, and Hutterite
Genetic Disorder Database

Muenke syndrome

Disorder
OMIM #: #602849  (Click to access OMIM database)
Disorder: Muenke syndrome 
Also known as: MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS 
Clinical
Phenotype: uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, developmental delay, thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: FGFR3
Base Change: C>G, at nucleotide 749
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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