Disease Information for Smith Magenis syndrome

Ads
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