Muenke Syndrome

A hereditary autosomal dominant disorder characterized by uni- or bicoronal synostosis (craniosyostoses), MACROCEPHALY, midfacial hypoplasia, and DEVELOPMENTAL DISABILITIES. Other more variable features include thimble-shaped middle phalanges, BRACHYDACTYLY, carpal/tarsal fusion, and DEAFNESS. The phenotype is variable and can range from no detectable clinical manifestations to complex findings. This disorder is caused by a mutation (P250R) in the FGFR3 gene. OMIM: 602849

Also Known As:

Networked: 25 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Craniosynostoses (Craniosynostosis)
2.	Acrocephalosyndactylia (Apert Syndrome)
3.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
4.	Congenital Abnormalities (Deformity)
5.	Achondroplasia

Experts

1.	Muenke, Maximilian: 6 articles (09/2021 - 12/2007)
2.	Agochukwu, Nneamaka B: 3 articles (03/2013 - 09/2012)
3.	Wilkie, Andrew O M: 3 articles (02/2009 - 08/2004)
4.	Choi, T M: 2 articles (03/2022 - 07/2019)
5.	Mathijssen, I M J: 2 articles (03/2022 - 07/2019)
6.	Ongkosuwito, E M: 2 articles (03/2022 - 07/2019)
7.	Wolvius, E B: 2 articles (03/2022 - 07/2019)
8.	Kruszka, Paul: 2 articles (09/2021 - 04/2016)
9.	Aravidis, Christos: 2 articles (04/2016 - 09/2014)
10.	Hadley, Donald W: 2 articles (04/2016 - 12/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Muenke Syndrome:

1.	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 11/01/2012 - "Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. " 07/01/2012 - "Muenke syndrome is characterized by various craniofacial deformities and is caused by an autosomal-dominant activating mutation in fibroblast growth factor receptor 3 (FGFR3(P250R) ). " 01/01/2011 - "Muenke syndrome is a fibroblast growth factor receptor 3 (FGFR-3)-associated coronal craniosynostosis syndrome, which was first described in 1997. " 02/01/2009 - "Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans. " 02/01/2009 - "Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. "
2.	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 01/01/2004 - "However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. "
3.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 08/01/2004 - "Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). "
4.	Proline (L-Proline)FDA Link 01/01/2011 - "Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564). "
5.	NucleotidesIBA 08/01/2004 - "Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). "
6.	LigandsIBA 01/01/2009 - "The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. "
7.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 03/01/2013 - "Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. "
8.	Codon (Codons)IBA 01/01/2011 - "Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564). "
9.	Arginine (L-Arginine)FDA Link 01/01/2011 - "Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564). "
10.	Amino AcidsFDA Link 01/01/2011 - "Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564). "

Therapies and Procedures

1.	Sutures (Suture) 03/01/2014 - "Most craniosynostoses in patients with Muenke syndrome involve bicoronal suture fusion. " 03/01/2014 - "Squamosal suture craniosynostosis in Muenke syndrome." 11/01/2011 - "Muenke syndrome caused by the FGFR3(P250R) mutation is an autosomal dominant disorder mostly identified with coronal suture synostosis, but it also presents with other craniofacial phenotypes that include mild to moderate midface hypoplasia. " 05/01/2004 - "Muenke syndrome is a genetically determined craniosynostosis that involves one or both coronal sutures. " 01/01/2021 - "A sample of 196 Finnish patients with single-suture craniosynostosis without additional birth defects or syndromes (excluding Muenke syndrome) was included in this study. "
2.	Oral Surgery (Maxillofacial Surgery) 01/01/2022 - "This study included 60 patients (38 patients with Muenke syndrome, 17 patients with Saethre-Chotzen syndrome, and 5 with TCF12-related craniosynostosis), aged 5.8-16.8 years that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care, and Orthodontics, in Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, the Netherlands. " 03/01/2022 - "We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. " 07/01/2019 - "Forty-eight patients (34 patients with Muenke syndrome, 8 patients with Saethre-Chotzen syndrome, and 6 patients with TCF12-related craniosynostosis) born between 1982 and 2010 (age range 4.84 to 16.83 years) that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands, were included. "
3.	Orthodontics 01/01/2022 - "This study included 60 patients (38 patients with Muenke syndrome, 17 patients with Saethre-Chotzen syndrome, and 5 with TCF12-related craniosynostosis), aged 5.8-16.8 years that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care, and Orthodontics, in Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, the Netherlands. " 03/01/2022 - "We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. " 07/01/2019 - "Forty-eight patients (34 patients with Muenke syndrome, 8 patients with Saethre-Chotzen syndrome, and 6 patients with TCF12-related craniosynostosis) born between 1982 and 2010 (age range 4.84 to 16.83 years) that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands, were included. "
4.	Dental Care 01/01/2022 - "This study included 60 patients (38 patients with Muenke syndrome, 17 patients with Saethre-Chotzen syndrome, and 5 with TCF12-related craniosynostosis), aged 5.8-16.8 years that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care, and Orthodontics, in Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, the Netherlands. " 03/01/2022 - "We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. " 07/01/2019 - "Forty-eight patients (34 patients with Muenke syndrome, 8 patients with Saethre-Chotzen syndrome, and 6 patients with TCF12-related craniosynostosis) born between 1982 and 2010 (age range 4.84 to 16.83 years) that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands, were included. "
5.	Therapeutics 01/01/2009 - "We conclude that low-frequency sensorineural hearing loss is a characteristic feature of Muenke syndrome and that the genetically equivalent mouse provides an excellent model that could be useful in testing hearing loss therapies aimed at manipulating the levels of FGF signalling in the inner ear."