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About: Robinow syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:WikicatSyndromes, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:WikicatCellSurfaceReceptorDeficienciesyago:Abstraction100002137yago:Attribute100024264yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Disease114070360yago:GeneticDisease114151139yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:Lack114449405yago:Need114449126yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatGeneticDisordersdiseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatSyndromes New Facet based on Instances of this Class

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist , along with physicians and , in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.