Disease Information for Dysplasia, spondyloepiphyseal/DMC disease

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Waddling Trendelenberg Gait
Barrel chest/Increased AP diameter
Joint/limit range of motion
Lumbar lordosis/excess
Spine pain/vertebral skeletal pain
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Ethnic or Racial Factors
Icelander/Greenland population
Lebanese Population
Middle Eastern Population
Norwegian population
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)
SNIP/Polymorphism at 18q21.1
Diagnostic Test Results
X-RAY
Xray/Dysostosis multiplex findings
Xray/Lumbosacral spine/abnormalities
Xray/Spine Abnormal
Xray/Spondyloepiphyseal dysplasia (spine)
Associated Diseases & Rule outs
Associated Disease & Complications
Dysostosis multiplex
Kyphoscoliosis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Skeletal (category)
CLASS/Vertebra/Spine disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 18q21.1
Pathophysiology/Gene locus Chromosome 18
Pathophysiology/Gene locus Chromosome 18q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Dysplasia/aplasia (ex)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Vertebral anomalous congenital syndrome
Synonyms
Synonym
(Spondyloepiphyseal dysplasia) or (pseudoachondroplasia), Dysplasia Spondyloepiphyseal, Dysplasias Spondyloepiphyseal, SED Spondyloepiphys dyspl, SED Spondyloepiphyseal dysplasia, SED CONGENITA, SEDC, SEDC Spondyloep dyspl cong, SEDC Spondyloepiphyseal dysplasia congenita, Spondyloepiph dyspl congen grp, Spondyloepiphys dysplas congen, Spondyloepiphyseal dysplasia, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, Spondyloepiphyseal dysplasia congenita (disorder), Spondyloepiphyseal dysplasia congenita group, Spondyloepiphyseal dysplasia congenita group (disorder), Spondyloepiphyseal dysplasia congenita syndrome, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITAL TYPE, Spondyloepiphyseal Dysplasias, Synonym/DMC disease, Synonym/Dyggve-Melchior-Clausen syndrome, Synonym/Smith-McCort dwarfism variant (no MR)
Definition

Dyggve-Melchior-Clausen rare autosomal recessive disease;

causes skeletal dwarfism and deformitis and may not be a mucopolysacchidosis; Mental retardation usually occurs (Smith-McCort variant has NO MR); features short stature,pectus carinum,flattened vertebrae anterior beaking with short trunk, odd carpals and short metacarpals, long bone changes; there is a diagnostic xray picture [small ilia with broad lacy crests];lateral displacement of capital femoral epiphysis

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External Links Related to Dysplasia, spondyloepiphyseal/DMC disease
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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)
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