National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Thrombocytopathy asplenia miosis


Other Names:
Stormorken syndrome; Stormorken-Sjaastad-Langslet syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3204

Definition
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.

Visit the Orphanet disease page for more resources.
Last updated: 8/1/2007

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal thrombocyte morphology
Platelet abnormalities
0001872
Abnormality of coagulation 0001928
Abnormality of the musculature
Muscular abnormality
0003011
Anemia
Low number of red blood cells or hemoglobin
0001903
Asplenia
Absent spleen
0001746
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
High forehead 0000348
Ichthyosis 0008064
Miosis
Constricted pupils
Pupillary constriction
[ more ] 		0000616
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Purpura
Red or purple spots on the skin
0000979
Short stature
Decreased body height
Small stature
[ more ] 		0004322
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Thrombocytopathy asplenia miosis. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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