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 Smith Magenis syndrome

Clinical Manifestations
Signs & Symptoms: Particular physiognomy/Odd looking kids
: Craniofacial Abnormalities/Congenital; Face broad/flat midface; Facies particular; Midfacial hypoplasia/flat face dysmorphism; Wide Nasal Bridge
: Onychotillomania/nail removal; Pulls out toenails/fingernails
: Large/protruding jaw/prognathism; Uvula anomaly/deformity
: Behavior problems; High pain threshold; High pain threshold/infant; Hypereactive Child; Hypereactive/on exam; Mental Deficiency Child; Reversed/perverse sleep pattern/rhythm
: Behavior inserting objects nose/ears; Behavior/obsessive mannerisms; Compulsive self-mutilation; Destructive Behavior; Head banging behavior; Hyperactivity, child/signs; Polyembolokoilamania/Insertions foreign body; Psychomotor retardation; Self-inflicted wounds/mutilation; Short attention span; Wrist biting behavior
: High arches/foot/sign
: Deepening of voice/Low voice; Odd sounding voice/husky; Snoring; Voice change/disturbance/Unusual
: Dysmorphic appearance/face; Nervousness/excitability/hyperactive adult; Short stature; Short stature Child
: Hearing problems; Low set ears/congenital; Low set/odd position ears
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)
: Presentation/Broad flat midface Nasal bridge Protruding jaw
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured): Chromosomal abnormality (Lab); DNATest specific/genetics laboratory/abnormality (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications: Atrial septal defect; Brachycephaly; Cleft Lip; Cleft lip/deformity; Cleft palate/deformity; Craniosynostosis; Deafness; Deafness, congenital; Ear deformities/congenital; Iris Coloboma Defect; Mental retardation; Microcornea; Neurobehavior Problems; Radio-ulnar synostosis anomaly; Smith Magenis syndrome; Ventricular septal defect
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/Chromosome 17/Large deletion; Pathophysiology/Chromosome gene/segment deletion (ex); Pathophysiology/Sporadic/hereditary/process
: Pathophysiology/CTSA (Cathepsin A) Gene Mutation; Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Chromosomal disorder (ex); PROCESS/Congenital/developmental (category); PROCESS/Eponymic (category); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/INCIDENCE/Extremely rare disease; PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Multiple dysmorphic syndrome (ex)
: PROCESS/Anomalies/Deformities/Malformations (EX)
: PROCESS/Congenital CNS disorder (ex)
: PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym: Smith Magenis syndrome, Synonym/Chromosome 17, interstitial deletion 17p, Synonym/SMCR, Synonym/Smith-Magenis Chromosome region, Synonym/Smith's Syndrome, Synonym/SMS
Treatment
Other Treatments: TX/Constitutional/No definitive treatment
Definition: Be the first to add a definition for Smith Magenis syndrome
External Links Related to Smith Magenis 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.