Stormorken 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.
Also known as: Stormorken syndrome, Thrombocytopathy-asplenia-miosis syndrome, STRMK, Thrombocytopathy asplenia miosis.
Category: General
Symptoms associated with Stormorken syndrome
The following symptoms have been associated with Stormorken syndrome in medical literature. Not everyone experiences the same symptoms.
Abnormal bleeding
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be...
Bruising susceptibility
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ru...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Epistaxis
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose....
Hematuria
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic...
Increased muscle fatiguability
An abnormal, increased fatiguability of the musculature....
Migraine
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated sympt...
Myalgia
Pain in muscle....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Tests used to investigate Stormorken syndrome
Healthcare providers may order these tests when evaluating Stormorken syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Stormorken syndrome, which is why a clinical evaluation is important.
Acute promyelocytic leukemia
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Autoerythrocyte sensitization syndrome
Autoerythrocyte sensitization syndrome is a medical condition that may be associated with various symptoms and...
Hypermobile Ehlers-Danlos syndrome
Hypermobile Ehlers-Danlos syndrome is a medical condition that may be associated with various symptoms and sig...
Immunoglobulin A vasculitis
Immunoglobulin A vasculitis is a medical condition that may be associated with various symptoms and signs....
Relapsing fever
Relapsing fever is a medical condition that may be associated with various symptoms and signs....
Vascular Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome is a medical condition that may be associated with various symptoms and signs....
Frequently Asked Questions
What is Stormorken syndrome?
Stormorken syndrome is a health condition described in medical literature. 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.
What are the symptoms of Stormorken syndrome?
Stormorken syndrome is associated with 9 symptoms in the medical literature we index, including Abnormal bleeding, Bruising susceptibility, Deeply set eye, Epistaxis, Hematuria, Increased muscle fatiguability. Symptoms vary widely between individuals.
How is Stormorken syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Stormorken syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Stormorken syndrome, please discuss your symptoms with a qualified healthcare provider.