About: Langer?Giedion syndrome     Goto   Sponge   NotDistinct   Permalink

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Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.

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  • متلازمة لانجر-جيديون
  • Langer–Giedion syndrome
  • Syndrome tricho-rhino-phalangien type 2
  • Sindrome di Langer-Giedon
rdfs:comment
  • متلازمة لانجر-جيديون هو اضطراب وراثي جسمي غير شائع ناتج عن حذف مادة كروموسومية. يدعى اثنين من الأطباء الذين اضطلعوا بالبحوث الرئيسية في حالة في الستينيات. وعادة ما يتم التشخيص عند الولادة أو في مرحلة الطفولة المبكرة.
  • Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.
  • Le syndrome de Langer-Giedion, ou syndrome tricho-rhino-phalangien de type 2, est caractérisé par l'association d'un déficit intellectuel et de nombreuses anomalies incluant : * nez bulbeux, * oreilles décollées, * cheveux clairsemés, * épiphyses des phalanges en cône, * exostoses cartilagineuses multiples. Ce syndrome est dû à une microdélétion chromosomique de la région 8q23.3-q24.13 entraînant la perte d'au moins deux gènes : TRPS1 et EXT1.
  • La sindrome di Langer-Giedon è una malattia genetica a trasmissione autosomica dominante causata da una delezione genica a livello del cromosoma 8.
foaf:name
  • Langer–Giedion syndrome
name
  • Langer–Giedion syndrome
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caption
  • A person showing the typical features of Langer-Giedion syndrome
synonyms
  • Deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II , Langer-Giedion chromosome region
has abstract
  • متلازمة لانجر-جيديون هو اضطراب وراثي جسمي غير شائع ناتج عن حذف مادة كروموسومية. يدعى اثنين من الأطباء الذين اضطلعوا بالبحوث الرئيسية في حالة في الستينيات. وعادة ما يتم التشخيص عند الولادة أو في مرحلة الطفولة المبكرة.
  • Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.
  • Le syndrome de Langer-Giedion, ou syndrome tricho-rhino-phalangien de type 2, est caractérisé par l'association d'un déficit intellectuel et de nombreuses anomalies incluant : * nez bulbeux, * oreilles décollées, * cheveux clairsemés, * épiphyses des phalanges en cône, * exostoses cartilagineuses multiples. Ce syndrome est dû à une microdélétion chromosomique de la région 8q23.3-q24.13 entraînant la perte d'au moins deux gènes : TRPS1 et EXT1.
  • La sindrome di Langer-Giedon è una malattia genetica a trasmissione autosomica dominante causata da una delezione genica a livello del cromosoma 8.
MeSH ID
  • D015826
DiseasesDB
ICD
  • ICD-10: Q87.8
MeshID
  • D015826
OMIM
Orphanet
DiseasesDB
  • 31949
ICD10
  • ICD-10: Q87.8
OMIM id
ORPHA
  • 502
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