Disease Information for Spondylometaphyseal dysplasia syndrome

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Clinical Manifestations
Signs & Symptoms
Short neck/Brevicollis
Poor weight gain/child
Hypotonia
Back Pain Young Adult
Coxa varus deformity
Dysmorphic dwarfism/short stature
Low Back Pain in Children
Lumbar lordosis/excess
Spine pain/vertebral skeletal pain
Sternum deformities
Trunk shorted/deformity
Dysmorphic appearance/face
Growth/development delay
Short stature
Short stature Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Maternal MSAFP/Quad test (Inhibin A/HG/UE3/AFP)
Maternal triple test (APF/HG/Estriol) abnormal (labs)
MSAFP test (maternal) abnormal (labs)
Diagnostic Test Results
X-RAY
Xray/Spine Abnormal
Xray/Spondyloepiphyseal dysplasia (spine)
Xray/Vertebral lesion
XRAY/Widened short bones (hands/ribs/clavicle)
Associated Diseases & Rule outs
Associated Disease & Complications
Dwarfism
Growth retardation/failure
Hip contracture
Kyphoscoliosis
Myopia
Nanism/dwarfism
Pectus carinatum/pigeon chest
Retina detachment
Skeletal dysplasia
Spinal anomaly, congenital
Disease Mechanism & Classification
Class
CLASS/Axial skeletal involvement/disorder (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Metaphysis dysplasia/dysostosis
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Hereditofamilial variant/pedigrees reported (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
PROCESS/Vertebral anomalous congenital syndrome
Synonyms
Synonym
Spondylometaphyseal dysplasia syndrome, Synonym/Pseudoachondroplasia, Synonym/SED Congenital, Synonym/SED Tarda variant, Synonym/SEDC, Synonym/Spondylepiphyseal dysplasia/x-linked variant, Synonym/Spondyloepiphyseal dysplasia congenita, Synonym/Spondyloepiphyseal dysplasia, tarda (variant)
Treatment
Other Treatments
TX/Constitutional/No definitive treatment
Definition
Be the first to add a definition for Spondylometaphyseal dysplasia syndrome
External Links Related to Spondylometaphyseal dysplasia 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)
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