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Dysmorfieën

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TermDefinition
Webbed neck Brede nek door laterale huidplooien van clavicula naar hoofd. Komt veel voor bij syndroom van Turner en syndroom van Noonan.
Epicanthusplooi Plooi over de binnenste ooghoek
Dolichocephalie Lang en dun gevormd hoofd
Brachycephalie Kort en breed hoofd
Hypotelorisme Ogen staan dicht bij elkaar
Hypertelorisme Ogen staan ver uit elkaar
Ptosis Neerhangen van ooglid
Clinodactylie Zijwaartse verkromming aan 1 of meerdere vingers/tenen
Brachydactylie Korte vingers/tenen
Syndactylie Vingers/tenen die aan elkaar vergroeid zijn
Polydacylie Extra vingers/tenen
Camptodactylie Vingers/tenen die niet kunnen strekken
Kort philtrum Korte verticaal kuiltje tussen neus en bovenlip
Micrognathie Kleine onderkaak met niet ontwikkelde kin
Spina bifida Open rug / neurale buis defect - meestal lumbaal, soms sacraal of thoracaal
Schisis Onvolledige sluiting lip, kaak en/of gehemelte.
Coloboom Ontbreken van deel van oog
Cataract Staar / vertroebeling ooglens. Kan veroorzaakt zijn omdat moeder tijdens zwangerschap besmet is geweest met rubella
Hypospadie Urethra mondt niet uit aan top van de glans, maar aan de onderzijde of zelfs aan de basis van de penis
Cryptorchisme Niet ingedaalde testes
Bijoortje Huidknobbeltje in de lijn tussen oor en mondhoek, vooral naast oor. Bestaan uit huid, vet en kraakbeen. Kan passen bij ontwikkelinsstoornissen van de kaak en ruggengraat, zoals Goldenhar.
Sacrale dimple Gaatje boven de billen. Kan passen bij spina bifida occulta
Created by: Melsie
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