Laurence-Moon syndrome

Laurence-Moon syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 30072
ICD10 = ICD10|Q|87|8|q|80
ICD9 = ICD9|759.89
ICDO =
OMIM = 245800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = 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. [WhoNamedIt|synd|3746] [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]

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. [cite journal |author=Moore S, Green J, Fan Y et al |title=Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study |journal=Am. J. Med. Genet. A |volume=132 |issue=4 |pages=352–60 |year=2005 |pmid=15637713 |doi=10.1002/ajmg.a.30406]

References

External links

* [http://www.specialchild.com/archives/dz-035.html Laurence-Moon-Bardet-Biedl Syndrome]
* [http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=203 Medical notes and references]


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Look at other dictionaries:

  • Laurence-Moon syndrome — Lau·rence Moon syndrome (lawґrəns m nґ) [John Zachariah Laurence, British ophthalmologist, 1830–1874; Robert C. Moon, American ophthalmologist, 1844–1914] see under syndrome …   Medical dictionary

  • Laurence-Moon syndrome — an autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, hypogonadism, and spastic paraplegia; cf. Bardet Biedl s. and Biemond s., II …   Medical dictionary

  • LAURENCE-MOON-BARDET-BIEDL (SYNDROME DE) — LAURENCE MOON BARDET BIEDL SYNDROME DE Manifestations d’un syndrome décrites pour la première fois par Laurence et Moon (1865), et dont la description a été reprise et complétée par Bardet (1920) et Biedl (1922). Le syndrome associe, de manière… …   Encyclopédie Universelle

  • Laurence-Moon-Bardet-Biedl-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert …   Deutsch Wikipedia

  • Laurence-Moon-Biedl-Bardet-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert …   Deutsch Wikipedia

  • Laurence-Moon-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert …   Deutsch Wikipedia

  • Laurence-Moon-Biedl syndrome — Lau·rence Moon Biedl syndrome lȯr ən(t)s mün bēd əl , lär n an inherited disorder affecting esp. males and characterized by obesity, mental retardation, the presence of extra fingers or toes, subnormal development of the genital organs, and… …   Medical dictionary

  • Syndrome de Laurence-Moon — Cette maladie est un syndrome héréditaire composé des symptômes suivants: Rétinite pigmentaire Obésité Retard mental Insuffisance des ovaires ou des testicules Il se peut que ces symptômes se mélangent avec les autres symptômes suivants: Reins… …   Wikipédia en Français

  • síndrome de Laurence-Moon — Eng. Laurence Moon syndrome Síndrome en el que se asocia a la sintomatología del Síndrome de Bardet Biedl (degeneración tapetorretiniana, oligofrenia, obesidad, hipogonadismo, hipogenitalismo, polibraquisindactilia) síntomas de focalidad… …   Diccionario de oftalmología

  • Laurence-Moon-Biedl syndrome — an autosomal recessive condition characterized by obesity, short stature, learning disabilities, retinitis pigmentosa, and hypogonadism. It is a cause of delayed puberty. [Z. Laurence (1830–74), British ophthalmologist; R. C. Moon (1844–1914), US …   The new mediacal dictionary

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