Epilepsy-telangiectasia syndrome

Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.

Short 5th finger

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.


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