National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kindler syndrome

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My mother had Kindler Syndrome. I now have two daughters of my own. It never even crossed my mind during my pregnancies that I might be passing along this gene or give birth to a child with Kindler Syndrome.  In general, what is the likelihood of me having a child with this disease?
Kindler syndrome is inherited in an autosomal recessive pattern.[1] This means that both parents must be a carrier of a mutation in the FERMT1 gene for there to be a chance that their child could have Kindler syndrome. Because Kindler syndrome is so rare[1], it is very unlikely that both members of a couple are carriers.  However, if both parents are carriers, there is a 25% chance for each child to be affected, a 50% chance for each child to be an unaffected carrier, and a 25% chance for each child to be neither affected nor a carrier.
Last updated: 11/30/2016

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  1. Freiman A. Kindler syndrome. Medscape. August 17, 2015; http://emedicine.medscape.com/article/1118967-overview.