About: Ulna hypoplasia-intellectual disability syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)
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Ulna hypoplasia-intellectual disability syndrome is a very rare genetic disorder which is characterized by shortening of the arms associated with ulnar aplasia/hypoplasia, bilateral clubbed feet, widespread nail aplasia/hypoplasia, and severe psychomotor delays with intellectual disabilities. It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner.

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  • Ulna hypoplasia-intellectual disability syndrome (en)
rdfs:comment
  • Ulna hypoplasia-intellectual disability syndrome is a very rare genetic disorder which is characterized by shortening of the arms associated with ulnar aplasia/hypoplasia, bilateral clubbed feet, widespread nail aplasia/hypoplasia, and severe psychomotor delays with intellectual disabilities. It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner. (en)
name
  • Ulna hypoplasia-intellectual disability syndrome (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/Ulnare_Hemimelie_mit_Synostose_von_Humerus_und_Radius_mit_Fraktur_27M_-_CR_ap_-_001.jpg
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frequency
  • very rare, only 2 cases have been described in medical literature (en)
has abstract
  • Ulna hypoplasia-intellectual disability syndrome is a very rare genetic disorder which is characterized by shortening of the arms associated with ulnar aplasia/hypoplasia, bilateral clubbed feet, widespread nail aplasia/hypoplasia, and severe psychomotor delays with intellectual disabilities. It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner. (en)
prevention
  • none (en)
prognosis
  • Poor (en)
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