Fitzsimmons-Guilbert syndrome

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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. [cite web | title = Paraplegia - brachydactyly - cone-shaped epiphysis | work = ORPHANET | url = http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2823 | accessdate = 2007-03-17]

History

Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life.cite journal |author=Fitzsimmons J, Guilbert P |title=Spastic paraplegia associated with brachydactyly and cone shaped epiphyses |journal=J Med Genet |volume=24 |issue=11 |pages=702–5 |year=1987 |pmid=3430547] 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.

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.cite journal |author=Hennekam R |title=Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome |journal=J Med Genet |volume=31 |issue=3 |pages=251–2 |year=1994 |pmid=8014978] cite journal |author=Lacassie Y, Arriaza M, Duncan M, Dijamco C, McElveen C, Stahls P |title=Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? |journal=Am J Med Genet |volume=84 |issue=2 |pages=90–3 |year=1999 |pmid=10323731 |doi=10.1002/(SICI)1096-8628(19990521)84:2<90::AID-AJMG2>3.0.CO;2-8]

Pathophysiology

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

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