Disease Information for Debre-Semelaigne syndrome

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Clinical Manifestations
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
Disease Mechanism & Classification
Class
CLASS/Endocrine gland (category)
CLASS/Muscle/tendon/extremities (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Infantile myxedema (Brissaud syndrome 1) associated with muscle hypertrophy affecting mainly the the extremities, giving the affected children the "herculean" (prize-fighter, athletic, or pseudo-athletic appearance). The phenotype may also include characteristic facies, retarded mental and physical development, delayed dentition, and other disorders.

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External Links Related to Debre-Semelaigne syndrome
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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