Laurence-Moon syndrome
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| Laurence-Moon syndrome Classification and external resources |
|
| ICD-10 | Q87.8 |
|---|---|
| ICD-9 | 759.89 |
| OMIM | 245800 |
| DiseasesDB | 30072 |
| MeSH | D007849 |
Laurence-Moon syndrome is a rare hereditary condition associated with retinitis pigmentosa, spastic paraplegia, hypogonadism and mental retardation.
[edit] Eponym and nomenclature
It is named after the physicians John Zachariah Laurence and Robert Charles Moon who provided the first formal description of the condition in a paper published in 1866.[1][2]
In the past, this condition has also been referred to as Laurence-Moon-Bardet-Biedl or Laurence-Moon-Biedl-Bardet syndrome, but Bardet-Biedl syndrome is now usually recognized as a separate entity. However, some recent research suggests that the two conditions may not be distinct.[3]
[edit] References
- ^ synd/3746 at Who Named It
- ^ Laurence J.Z., Moon R.C.: Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development, Ophthal. Rev. 1866, 2:32-41
- ^ Moore S, Green J, Fan Y et al (2005). "Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A 132 (4): 352–60. doi:. PMID 15637713.
[edit] External links
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