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Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene.

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  • Adducted thumb syndrome (en)
  • متلازمة الإبهام المقرب (ar)
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  • متلازمة الإبهام المقرب المتنحية أو متلازمة كريستيان هو مرض نادر يؤثر على أنظمة متعددة مما تسبب في تشوهات الحنك، والإبهام، والأطراف العلوية. اسم المتلازمة مستمد من جو كريستيان، أول شخص وصف الحالة. ويعتقد أنها حاله وراثيه، والناجمة عن طفرة في الجين CHST14 (الكربوهيدرات سولفوترانزفيراس 14). (ar)
  • Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene. (en)
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  • Adducted thumb syndrome (en)
name
  • Adducted thumb syndrome (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/autorecessive.svg
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  • Adducted thumb syndrome has a lysosomal recessive pattern of inheritance (en)
causes
  • mutation in the CHST14 gene (en)
synonyms
  • Christian syndrome, craniostenosis arthrogryposis cleft palate (en)
has abstract
  • متلازمة الإبهام المقرب المتنحية أو متلازمة كريستيان هو مرض نادر يؤثر على أنظمة متعددة مما تسبب في تشوهات الحنك، والإبهام، والأطراف العلوية. اسم المتلازمة مستمد من جو كريستيان، أول شخص وصف الحالة. ويعتقد أنها حاله وراثيه، والناجمة عن طفرة في الجين CHST14 (الكربوهيدرات سولفوترانزفيراس 14). (ar)
  • Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene. (en)
medical cause
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  • 31689
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