| H00997 | |
| H number | H00997 |
| 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 |
| Network | - |
| Gene | FGFR3 [HSA:2261] [KO:K05094] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 | PMID:17033969 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 |