About: Langer–Giedion syndrome

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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.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatAutosomalDominantDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	متلازمة لانجر-جيديون (ar) Syndrome tricho-rhino-phalangien type 2 (fr) Langer–Giedion syndrome (en) Sindrome di Langer-Giedon (it)
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. (ar) 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. (en) 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. (fr) La sindrome di Langer-Giedon è una malattia genetica a trasmissione autosomica dominante causata da una delezione genica a livello del cromosoma 8. (it)
foaf:name	Langer–Giedion syndrome (en)
name	Langer–Giedion syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting teeth Syndromes affecting head size Rare syndromes Autosomal dominant disorders Syndromes affecting stature
Wikipage page ID	195631 (xsd:integer)
Wikipage revision ID	1100649791 (xsd:integer)
Link from a Wikipage to another Wikipage	Scoliosis Tricho-rhino-phalangeal syndrome Type 1 Human skull Cytogenetics Syndromes affecting teeth Genetic disorder Clinodactyly Gene Brachydactyly Legg–Calvé–Perthes disease EXT1 Syndromes affecting head size Fibrodysplasia Ossificans Progressiva Chromosome 8 Hip dysplasia Rare syndromes Hypertelorism Autosomal dominant disorders Syndromes affecting stature Ectodermal dysplasia Thigh bone Dominance (genetics) Autosome Human skeleton Microcephaly Micrognathia External fixation Philtrum Winged scapula Retrognathia Joint hypermobility Genetic deletion TRPS1 dbr:Supernumerary_central_incisors
sameAs	Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:RareDiseases dbt:Transcription_factor/coregulator_deficiencies
thumbnail	wiki-commons:Special:FilePath/Langer-Giedion_syndrome.jpg?width=300
DiseasesDB	31949 (xsd:integer)
ICD	ICD-10: Q87.8 (en)
MeshID	D015826 (en)
OMIM	150230 (xsd:integer)
Orphanet	502 (xsd:integer)
caption	A person showing the typical features of Langer–Giedion syndrome (en)
synonyms	Deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II , Langer–Giedion chromosome region (en)

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