Synonyms: Stormorken syndrome | Thrombocytopathy-asplenia-miosis syndrome
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy asplenia miosis muscle fatigue migraine dyslexia and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
Bleeding Disorders Alliance Illinois
The Bleeding Disorders Alliance Illinois exists to improve the quality of life for the inherited bleeding disorders community by supporting individuals and their families with unbiased information and resources which allows them to live healthy and active lives.
National Center of Hematology and Blood Transfusion
Treatment of patients with blood diseases,scientific-research works
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
For a list of clinical trials in this disease area, please click here.