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Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families (hence "familial"). Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature.

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  • Das Dreigliedriger Daumen-Polysyndaktylie-Syndrom oder Präaxiale Polydaktylie Typ 2 ist ein angeborenes Fehlbildungssyndrom von Hand und Fuß mit einem fingerartig dreigliedrigem Daumen (Triphalangealer Daumen) und fakultativ zusätzlicher Doppelung von Daumenelementen. Es besteht eine Assoziation mit dem Holt-Oram-Syndrom und der Fanconi-Anämie. (de)
  • Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families (hence "familial"). Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature. (en)
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dbp:causes
dbp:duration
  • Life-long (en)
dbp:frequency
  • Rare, less than 1 in 25,000 births. (en)
dbp:name
  • Familial opposable triphalangeal thumb duplication (en)
dbp:onset
  • Birth (en)
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  • Das Dreigliedriger Daumen-Polysyndaktylie-Syndrom oder Präaxiale Polydaktylie Typ 2 ist ein angeborenes Fehlbildungssyndrom von Hand und Fuß mit einem fingerartig dreigliedrigem Daumen (Triphalangealer Daumen) und fakultativ zusätzlicher Doppelung von Daumenelementen. Es besteht eine Assoziation mit dem Holt-Oram-Syndrom und der Fanconi-Anämie. (de)
  • Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families (hence "familial"). Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature. (en)
rdfs:label
  • Dreigliedriger Daumen-Polysyndaktylie-Syndrom (de)
  • Familial opposable triphalangeal thumbs duplication (en)
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