Laurence-Moon syndrome
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| Laurence-Moon syndrome | |
| 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.
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]
References
- ↑ Template:WhoNamedIt
- ↑ 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. PMID 15637713.