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: pro 250 --> arg
Last updated: 2020-06-19 

References
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. (1997) A Unique Point Mutation in the Fibroblast Growth Factor Receptor 3 Gene (FGFR3) Defines a New Craniosynostosis Syndrome. Am J Hum Genet Mar;60(3):555-64.
PubMed ID: 9042914 

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