Rare genetic disease affecting palate, thumbs, and upper limbs
Medical condition
Adducted thumb syndrome
Other names
Christian syndrome, craniostenosis arthrogryposis cleft palate
Adducted thumb syndrome has a lysosomal recessive pattern of inheritance
Causes
mutation 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,[1] caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene.[2]
^Fitch N, Levy EP (1975). "Adducted thumb syndromes". Clin. Genet. 8 (3): 190–8. doi:10.1111/j.1399-0004.1975.tb01493.x. PMID 1175322. S2CID 31187237.
^
"CHST14". National Center for Biotechnology Information database. NCBI. Retrieved 21 March 2013.
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