Disease Information for Dysplasia, multiple epiphyseal

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Clinical Manifestations
Signs & Symptoms
Short stature
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/Skeletal (category)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Multiple Epiphyseal Dysplasia; MED; Subdivisions:Multiple Epiphyseal Dysplasia, Fairbank Type ;Multiple Epiphyseal Dysplasia, Ribbing Type; Multiple epiphyseal dysplasia (MED) is a rare inherited spectrum of disorders characterized by malformation (dysplasia) of the "growing portion" or head of the long bones (epiphyses); Affected individuals may have an abnormally short thighbone (femur), unusually short hands and fingers, mild short stature, a waddling gait, and/or pain in the hips and knees; In some cases, painful swelling and inflammation of certain joints (arthritis) may be present as early as five years of age; Most cases of multiple epiphyseal dysplasia are inherited as autosomal dominant traits; rare cases are inherited as autosomal recessive traits-------[NORD]--------------

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External Links Related to Dysplasia, multiple epiphyseal
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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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