Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature of Stormorken syndrome is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia).
Inheritance Pattern
Autosomal dominant
Other Names
Stormorken-Sjaastad-Langslet syndrome; Thrombocytopathy, asplenia, and miosis
Related Genetics Topics
- STIM1 — MedlinePlus Genetics
Identifiers
- GTR: C1861451
- MeSH: D000015
- MeSH: D013921
- OMIM: 185070
- SNOMED CT: 711407000
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
