Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Muenke syndrome

Muenke syndrome is an autosomal dominant disorder caused by a specific mutation (p.P250R) of the FGFR3 gene.

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
FGFR3
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

Muenke M et al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

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2.

Reardon W et al. (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

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3.

Golla A et al. (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

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4.

None (1997) Craniosynostosis: genes and mechanisms.

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5.

Hollway GE et al. (1998) Deafness due to Pro250Arg mutation of FGFR3.

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6.

Gripp KW et al. (1998) Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

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7.

Lajeunie E et al. (1999) Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

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8.

Lowry RB et al. (2001) Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

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9.

Rannan-Eliya SV et al. (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

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10.

Mansour SL et al. (2009) Hearing loss in a mouse model of Muenke syndrome.

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11.

Grosso S et al. (2003) Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

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12.

Kress W et al. (2006) Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

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13.

van der Meulen J et al. (2006) Trigonocephaly in Muenke syndrome.

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14.

Shah PS et al. (2006) Sudden infant death in a patient with FGFR3 P250R mutation.

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15.

Doherty ES et al. (2007) Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

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16.

Escobar LF et al. (2009) Significant phenotypic variability of Muenke syndrome in identical twins.

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17.

Abdel-Salam GM et al. (2011) Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

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18.

Orphanet article

Orphanet ID 53271 [^]
19.

OMIM.ORG article

Omim 602849 [^]
20.

Wikipedia article

Wikipedia EN (Muenke_syndrome) [^]
Update: April 29, 2019