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 craniosynostosis, macrocephaly, deafness, brachycephaly, midfacial hypoplasia, ptosis, hypertelorism, developmental delay, thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal dominant
Mutations
1 Amish
Gene:	FGFR3
Base Change:	C>G, at nucleotide 749
Amino Acid Change:	pro 250 --> arg
Last updated:	2022-12-19

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

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

Back