Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Muenke-Syndrom

Das Muenke-Syndrom ist eine autosomal dominante Erkrankung, die durch eine Mutation (p.P250R) des FGFR3-Gens ausgelöst wird.

Gliederung

Knochendysplasie
Achondroplasie
Achondroplasie-SCID-Syndrom
Akro-capito-femorale Dysplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Cherubismus
Chondrodysplasie
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
FGFR3
Murk-Jansen metaphyseale Chondrodysplasie
Osteofibröse dysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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.

external link
14.

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

external link
15.

None (1997) Craniosynostosis: genes and mechanisms.

external link
16.

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

external link
17.

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

external link
18.

Orphanet article

Orphanet ID 53271 external link
19.

OMIM.ORG article

Omim 602849 external link
20.

Wikipedia Artikel

Wikipedia DE (Muenke-Syndrom) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz