Stormorken syndrome

Stormorken syndrome, also known as Stormorken-Sjaastad-Langslet syndrome, is a rare condition that has been described in a single family. This disorder is characterized by several issues, including problems with blood platelets (thrombocytopathy), absence of a spleen (asplenia), and constricted pupils (miosis). Other features include muscle fatigue, migraine, difficulties with reading (dyslexia), and a skin condition called ichthyosis.

People with this condition may experience several symptoms including abnormal platelet function, a missing spleen, and small pupils. Muscle fatigue, migraines, learning difficulties related to dyslexia, and dry, scaly skin (ichthyosis) have also been described. Information about the variety and severity of these symptoms is based on very limited data.

The cause of Stormorken syndrome is related to changes in the STIM1 gene. It is passed down through families following an autosomal dominant inheritance pattern, which means that one copy of the changed gene from an affected parent can cause the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.