KEGG   DISEASE: H00499Help
Entry
H00499                      Disease                                

Name
Spondylocarpotarsal synostosis syndrome
Description
Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations.
Category
Skeletal dysplasia
BRITE hierarchy
Gene
FLNB (nonsense mutation) [HSA:2317] [KO:K04437]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:18386804 (description, gene)
  Authors
Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M
  Title
Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
  Journal
Am J Med Genet A 146A:1230-3 (2008)
Reference
PMID:9557886 (description)
  Authors
Coelho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N
  Title
Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.
  Journal
Am J Med Genet 77:12-5 (1998)

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