About: Intellectual disability-spasticity-ectrodactyly syndrome     Goto   Sponge   NotDistinct   Permalink

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Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature.

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rdf:type
rdfs:label
  • Jancar-Syndrom (de)
  • Intellectual disability-spasticity-ectrodactyly syndrome (en)
rdfs:comment
  • Das Jancar-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Defekten der unteren Gliedmaßen mit geistiger Retardierung und Spastik. Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung im Jahr 1967 durch J. Jancar. (de)
  • Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature. (en)
name
  • Intellectual disabilitt-spasticity-ectrodactyly syndrome (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_recessive_-_en.svg
dcterms:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
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specialty
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deaths
  • - (en)
onset
  • Birth (en)
symptoms
  • intellectual disabilities, spastic paraplegia, and distal limb defects such as ectrodactyly (en)
causes
duration
  • Lifelong (en)
frequency
synonyms
  • Jancar syndrome (en)
has abstract
  • Das Jancar-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Defekten der unteren Gliedmaßen mit geistiger Retardierung und Spastik. Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung im Jahr 1967 durch J. Jancar. (de)
  • Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature. (en)
prevention
  • none (en)
risks
  • Being part of a consanguineous family, being of Middle Eastern descent. (en)
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page length (characters) of wiki page
alias
  • (en)
  • Jancar syndrome (en)
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