Epilepsy Telangiectasia syndrome
Type of disease: Rare conditions
Epilepsy telangiectasia (ET) is a extremely rare genetic disease, only currently diagnosed in 6 children of the same family in Mexico. Though no gene has been linked to the condition as of yet, it is believed to be inherited in an autosomal recessive manner.
A gene is a made up of DNA that codes for proteins responsible for normal bodily and cellular processes. Autosomal recessive inheritance means both parents have to be affected by or carriers of the gene to pass it on to their offspring.
Symptoms of ET include intellectual disability, epilepsy, widening of certain blood vessels (telangiectasia) in the membrane of the eye, problems with the immune system, small fifth fingers, and abnormal facial features, particularly a unibrow.
There are currently no diagnostic or treatment plans for ET due to its rarity. If you believe you or a family member could have ET, speak with your doctor to learn more information. Support groups may also be available for further resources.