Adducted thumb syndrome
Rare genetic disease affecting palate, thumbs, and upper limbs / From Wikipedia, the free encyclopedia
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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,[1] caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene.[2]
Quick Facts Other names, Causes ...
Adducted thumb syndrome | |
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Other names | Christian syndrome, craniostenosis arthrogryposis cleft palate |
Adducted thumb syndrome has a lysosomal recessive pattern of inheritance | |
Causes | mutation in the CHST14 gene |
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