Fitzsimmons-Guilbert syndrome

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Fitzsimmons-Guilbert syndrome
Classification and external resources
OMIM 270710

Fitzsimmons-Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal–phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit.[1]

[edit] History

Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life.[2] Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. In addition, they had nonspecific dysarthria and low-normal intellectual capacity.[2]

Since the original report, three more cases have been described, including two (Lacassie et al) with a more severe mental retardation and a different metacarpal-phalangeal pattern profile, though these cases may represent a new disease entity.[3][4]

[edit] Pathophysiology

With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.

[edit] References

  1. ^ Paraplegia - brachydactyly - cone-shaped epiphysis. ORPHANET. Retrieved on 2007-03-17.
  2. ^ a b Fitzsimmons J, Guilbert P (1987). "Spastic paraplegia associated with brachydactyly and cone shaped epiphyses". J Med Genet 24 (11): 702–5. PMID 3430547. 
  3. ^ Hennekam R (1994). "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome". J Med Genet 31 (3): 251–2. PMID 8014978. 
  4. ^ Lacassie Y, Arriaza M, Duncan M, Dijamco C, McElveen C, Stahls P (1999). "Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?". Am J Med Genet 84 (2): 90–3. doi:10.1002/(SICI)1096-8628(19990521)84:2<90::AID-AJMG2>3.0.CO;2-8. PMID 10323731.