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About: Ablepharon macrostomia syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.org associated with source document(s)

Type: ThingFuchs' dystrophyyago:WikicatAutosomalRecessiveDisordersyago:WikicatCongenitalDisordersyago:Abnormality114501726yago:Abstraction100002137yago:Anomaly114505821yago:Attribute100024264yago:BirthDefect114465048yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Defect114464005yago:Disease114070360yago:Disorder114052403yago:GeneticDisease114151139yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:Imperfection114462666yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatGeneticDisordersyago:WikicatGeneticDisordersWithOMIMButNoGenediseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatSyndromesumbel-rc:AilmentCondition New Facet based on Instances of this Class

Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities.