| Adducted thumb syndrome | |
|---|---|
| Other names | Christian syndrome, craniostenosis arthrogryposis cleft palate |
 | |
| Adducted thumb syndrome has a lysosomal recessive pattern of inheritance | |
| Causes | mutation in theCHST14 gene |
Adducted thumb syndrome recessive form is arare disease affecting multiple systems causing malformations of thepalate,thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to beautosomal recessive,[1] caused by mutation in theCHST14 (carbohydrate sulfotransferase 14) gene.[2]
This syndrome is characterised by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs,arachnodactyly,club feet, joint instability,facial clefting and bleeding disorders, as well as heart, kidney or intestinal defects. Severepsychomotor and developmental delay and decreased muscle tone may also be present during infancy. Cognitive development during childhood is normal.[3]
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The syndrome is associated withmicrocephaly,arthrogryposis andcleft palate and various craniofacial, respiratory, neurological and limb abnormalities, includingbone andjoint defects of the upper limbs,adducted thumbs,camptodactyly andtalipes equinovarus or calcaneovalgus. It is characterized by craniosynostosis, and myopathy in association with congenital generalizedhypertrichosis.[4]Patients with the disease are consideredintellectually disabled. Most die in childhood. Patients often have respiratory difficulties such aspneumonia, and fromseizures due to dysmyelination in the brain'swhite matter.[5] It has been hypothesized that theMoro reflex (startle reflex in infants) may be a tool in detecting thecongenital clasped thumb early in infancy. The thumb normally extends as a result of this reflex.[6]
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