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 Hunter's mucopolysaccharidosis syndrome

Clinical Manifestations
Signs & Symptoms: Particular physiognomy/Odd looking kids
: Craniofacial Abnormalities/Congenital
: Palpable Liver/Hepatomegaly
: Mental Deficiency Child
: Dysmorphic dwarfism/short stature; Macrocephaly/Large head
: Splenomegaly
: Coarsened facial features; Dysmorphic appearance/face; Short stature; Short stature Child
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)
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; Population/Male
Laboratory Tests
Abnormal Lab Findings (Non Measured): Chromosomal abnormality (Lab)
Abnormal Lab Findings - Increased: URINE Dermatan sulfate; URINE Heparan sulfate; URINE Mucopolysaccharides
Diagnostic Test Results
X-RAY: Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Associated Disease & Complications: Arteriosclerotic heart disease; Blindness in Children; Congenital heart disease; Dysostosis multiplex; Hunter syndrome/MPS II; Mental retardation; Organomegaly; Skeletal dysplasia; Skeletal/bone malformations; Valvular heart disease
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
: CLASS/Skeletal (category)
Pathophysiology: Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Gene locus Xq28; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Lysosome storage disorder (ex); Pathophysiology/Multisystem disease; Pathophysiology/Single gene locus indentified
: Pathophysiology/Glucosamine 6-sulfatase defect
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); PROCESS/Sex-linked (X-linked) recessive inheritance (ex); PROCESS/Storage disorder (ex)
: PROCESS/Dystostosis/craniofacial (ex); PROCESS/Vertebral anomalous congenital syndrome
Synonyms
Synonym: Deficiency of iduronate 2 sulfatase, Deficiency of iduronate 2 sulphatase, Gargoylism Hunter Syndrome, Gargoylisms Hunter Syndrome, Hunter disease, Hunter Fraser syndrome, Hunter McAlpine syndrome, Hunter syndrome, Hunter Syndrome Gargoylism, Hunter Syndrome Gargoylisms, Hunters Syndrome, Hunter's syndrome, Iduronate 2 sulfatase deficiency, Iduronate 2 sulphatase deficiency, iduronate sulfatase (IDS) deficiency, Iduronate sulfatase defic, iduronate sulfatase deficiency, Iduronate sulphatase defic, Iduronate sulphatase deficiency, IIs Mucopolysaccharidosis, MPS 2, MPS 2 Mucopolysaccharidosis 2, MPS II, MPS2 Mucopolysaccharidosis 2, MPSII Mucopolysaccharidosis type II, MPSII Mucopolysaccharidosis II, mucopolysaccharide storage disease II, mucopolysaccharidosis (MPS) II, Mucopolysaccharidosis 2, mucopolysaccharidosis II, Mucopolysaccharidosis IIs, Mucopolysaccharidosis MPS II, Mucopolysaccharidosis MPS II (disorder), Mucopolysaccharidosis type II, Mucopolysaccharidosis type II (MPS II), sulfo iduronate sulfatase (SIDS) deficiency, Sulfo iduronate sulfatase deficiency, Sulfoiduronidate sulfatase deficiency, Sulpho iduronate sulfatase deficiency, Sulpho iduronate sulphatase deficiency, Sulphoiduronate sulfatase def, Sulphoiduronate sulphatase def, Sulphoiduronidate sulphatase deficiency, syndrome Hunter, Syndrome Hunter's, type II mucopolysaccharidosis, X linked Hurler syndrome, Synonym/MPS II syndrome, Synonym/Type II mucopolysaccharidosis
Treatment
Drug Therapy - Indication: SX/Stem cell transplant/allogenic; SX/Stem-cell transplant
Definition: Be the first to add a definition for Hunter's mucopolysaccharidosis syndrome
External Links Related to Hunter's mucopolysaccharidosis 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.