distal symphalangism (sĭm-făl'ən-jĭz'əm)

Katie & I have a rare gene mutation called distal symphalangism. It is is ankylosis or rigidity of the distal interphalangeai joints of the hands. Findings report substantiate the mutation as an autosomal dominant phenotype. The most common expression of the mutant gene is rigid index fingers (which are where Katie and I have it). Craniosynostosis, premature closure of the sutures of the skull, is very closely related but is currently unexplainable as to why; hence my interest in it, a genetic oddity to Katie and I could be much worse for James and Miles.



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Notice her right index finger.