KEGG   DISEASE: CATSHL syndromeHelp
Entry
H00997                      Disease                                

Name
CATSHL syndrome
Description
CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth, and its mutations are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. The finding of CATSHL syndrome indicates that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00997  CATSHL syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00997  CATSHL syndrome
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04810  Regulation of actin cytoskeleton
Gene
FGFR3 [HSA:2261] [KO:K05094]
Comment
Mutations in FGFR3 cause different disorders.
FGFR3-related short limb skeletal dysplasias [DS:H00505]
Muenke craniosynostosis [DS:H00458]
Lacrimo-auriculo-dento-digital syndrome [DS:H00642]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.2
MeSH: C537975
OMIM: 610474
Reference
  Authors
Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ
  Title
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
  Journal
Am J Hum Genet 79:935-41 (2006)
DOI:10.1086/508433

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