Fitzsimmons-Guilbert Syndrome

Classification according to ICD-10
G82.1	Spastic paraparesis and paraplegia
ICD-10 online (WHO version 2019)

The Fitzsimmons-Guilbert syndrome is a very rare inherited disorder characterized by a combination of paraplegia , brachydactyly and cone-shaped .

Synonyms are: Fitzsimmons syndrome ; English also: Spastic Paraplegia associated with Brachydactyly Type E

The name refers to the authors of the first description from 1987 by the English doctor JS Fitzsimmons and PR Guilbert .

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance mechanism is not known.

Clinical manifestations

Clinical criteria are:

Slowly progressive spastic paraplegia
Skeletal changes such as brachydactyly type E, cone epiphyses , keel breast or chicken breast

literature

Y. Lacassie, MI Arriaza, MC Duncan, C. Dijamco, C. McElveen, PF Stahls: Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? In: American journal of medical genetics. Vol. 84, No. 2, May 1999, ISSN 0148-7299 , pp. 90-93, PMID 10323731 .

Web links

Fitzsimmons-Guilbert Syndrome. In: Online Mendelian Inheritance in Man . (English)

Individual evidence

↑ ^a ^b ^c Fitzsimmons-Guilbert syndrome. In: Orphanet (Rare Disease Database).
↑ JS Fitzsimmons, PR Guilbert: Spastic paraplegia associated with brachydactyly and cone-shaped epiphyses. In: Journal of medical genetics. Vol. 24, No. 11, November 1987, ISSN 0022-2593 , pp. 702-705, PMID 3430547 , PMC 1050351 (free full text).

[Orpha-1] Fitzsimmons-Guilbert syndrome. In: Orphanet (Rare Disease Database).

[2] JS Fitzsimmons, PR Guilbert: Spastic paraplegia associated with brachydactyly and cone-shaped epiphyses. In: Journal of medical genetics. Vol. 24, No. 11, November 1987, ISSN 0022-2593 , pp. 702-705, PMID 3430547 , PMC 1050351 (free full text).