Adducted thumb syndrome

Adducted thumb syndrome
Other namesChristian syndrome, craniostenosis arthrogryposis cleft palate
Adducted thumb syndrome has a lysosomal recessive pattern of inheritance
Causesmutation in the CHST14 gene

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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