Differential Diagnosis
Diseases
Drugs
More
[+] Tips
- Try building your search one term at a time, and be as specific as you can! Search term example: "chronic cough".
- Do not enter multiple findings such as "anemia, chronic cough, weight loss, vomiting" all at the same time.
- After selecting your term from the search results a list of possible diagnoses will be generated. If the list is too long, you will be able to narrow it down by entering additional terms.
- Do not enter values such as "heart rhythm 110" or "sodium 125", instead use "tachycardia" or "hyponatremia".

Disease Information for Scheie syndrome

Clinical Manifestations
Signs & Symptoms: Aortic systolic murmur
: Intelligence normal
: Stiffness of joints
: Dysmorphic appearance/face
: Corneal clouding
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Family History: Family history/Dwarfism
: Family history/Skeletal malformations
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased: URINE Dermatan sulfate; URINE Heparan sulfate
Associated Diseases & Rule outs
Associated Disease & Complications: Aortic dilatation/ectasia; Aortic regurgitation; Aortic stenosis; Carpal tunnel syndrome; Congenital heart disease; Glaucoma; Scheie syndrome
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Lysosome storage disorder (ex)
: Pathophysiology/accumulation Heparan and Dermatan Sulfate; Pathophysiology/Defect alpha-L-iduronidase
Process: PROCESS/Autosomal recessive disorder (ex); PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Eponymic (category); PROCESS/Hereditofamilial (category); PROCESS/Metabolic/storage disorder (category); PROCESS/Mucopolysaccharidoses (ex); PROCESS/Multiple dysmorphic syndrome (ex)
Synonyms
Synonym: L iduronidase deficiency Scheie type, MPS 1 S Mucopolysaccharidosis type I S, MPS 1 S Mucopolysaccharid I S, MPS 5, MPS I S, Mucopolysaccharidosis 5, Mucopolysaccharidosis I mild, Mucopolysaccharidosis I S, Mucopolysaccharidosis IS, Mucopolysaccharidosis MPS I S, Mucopolysaccharidosis MPS I S (disorder), Mucopolysaccharidosis type I mild form, Mucopolysaccharidosis type I S, MUCOPOLYSACCHARIDOSIS TYPE IS, Mucopolysaccharidosis type V (MPS V), Mucopolysaccharidosis V, Scheie, Scheie disease MPS type 1S, Scheie Syndrome, Scheie's syndrome, Syndrome Scheie, Syndrome Scheie's, Syndromes Scheie, Synonym/MPS IS syndrome, Synonym/Mucopolysaccharidosis Type IS
Treatment
Drug Therapy - Indication: SX/Stem cell transplant/allogenic; SX/Stem-cell transplant
Definition: Be the first to add a definition for Scheie syndrome
External Links Related to Scheie syndrome: Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

Ads

This site is designed primarily as a reminder system for use by qualified physicians and other medical professionals. By using this site you understand and accept that DiagnosisPro.com shall not be used as a diagnostic decision-making system and must not be used to make a clinical diagnosis or replace or overrule a licensed health care professional's judgment or clinical diagnosis (full terms of use). This site complies with the HONcode standard for trustworthy health information: verify here.