KEGG   DISEASE: Muenke syndromeHelp
Entry
H01990                      Disease                                

Name
Muenke syndrome;
Muenke craniosynostosis
  Supergrp
Syndromic craniosynostoses [DS:H00458]
Description
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01990  Muenke syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01990  Muenke syndrome
BRITE hierarchy
Gene
FGFR3 [HSA:2261] [KO:K05094]
Other DBs
ICD-11: LD24.GY
ICD-10: Q87.0
MeSH: C537369
OMIM: 602849
Reference
  Authors
Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M
  Title
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
  Journal
Am J Med Genet A 143A:3204-15 (2007)
DOI:10.1002/ajmg.a.32078
Reference
PMID:9279764
  Authors
Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S
  Title
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
  Journal
J Med Genet 34:683-4 (1997)
DOI:10.1136/jmg.34.8.683

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