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About: Weill–Marchesani syndrome     Goto   Sponge   NotDistinct   Permalink

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

Type: ThingDiseaseyago:WikicatCytoskeletalDefectsyago:Abstraction100002137yago:Attribute100024264yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Defect114464005yago:Disease114070360yago:GeneticDisease114151139yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:Imperfection114462666yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatGeneticDisordersdiseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatSyndromes New Facet based on Instances of this Class

Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866–1952) and Oswald Marchesani (1900–1952) who first described it in 1932 and 1939, respectively.