Fitzsimmons-Guilbert Syndrome
Classification according to ICD-10 | |
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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).