Disease Information for Dysplasia, progressive diaphyseal

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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/Pediatric disorders (ex)
CLASS/Skeletal (category)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Camurati Engelmann, Camurati Engelmann Disease, Camurati Engelmann Syndrome, CED, Diaphyseal dysplasia, Diaphyseal dysplasia (disorder), DIAPHYSEAL DYSPLASIA 1 PROGRESSIVE, Diaphyseal Dysplasia Progressive, Diaphyseal dysplasia syndrome, Diaphyseal Dysplasias Progressive, Diaphyseal sclerosis, DPD1, dysplasia diaphyseal, Dysplasia Progressive Diaphyseal, Dysplasias Progressive Diaphyseal, Engelmann, ENGELMANN DIS, Engelmann Disease, Engelmann syndrome, ENGELMANNS DIS, Engelmann's disease, Engelmann's syndrome, Engelman's disease, OSTEOPATHIA HYPEROSTOTICA MULTIPLEX INFANTILIS, Osteopathia hyperostotica multiplex infantis, Osteopathia hyperostotica scleroticans multiplex infantis, PDD, PROGRESSIVE DIAPHYSEAL DYSPLASIA, Synonym/Camurati-Engelmann Disease, Synonym/Engelmann Disease
Definition

Progressive thickening of diaphyseal cortex of long bones;

Camurati-Engelmann Disease; CED; Diaphyseal Dysplasia Camurati-Engelmann; Engelmann Disease; Progressive Diaphyseal Dysplasia; Camurati-Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia); Major symptoms may include bone pain, particularly in the legs; skeletal abnormalities; and/or weakness and underdevelopment (hypoplasia) of various muscles; Pain and weakness of the leg muscles may result in an unusual "waddling" walk (gait); Camurati-Engelmann disease is inherited as an autosomal dominant trait---- [NORD 2005]--------------

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NEJM (The New England Journal of Medicine)
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