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- Disease Information
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Disease Processes ▼
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Disease Information for Jarcho-Levin Spondylocostal dysplasia Syndrome
- Clinical Manifestations
- Signs & Symptoms
- Particular physiognomy/Odd looking kids
- Congenital facial deformities
- Craniofacial Abnormalities/Congenital
- Short neck/Brevicollis
- Increased abdominal girth/Potbelly
- Long arms
- Long legs
- Cervical spine/neck limited motion
- Limited neck movement
- Shortened Truncal axial skeleton
- Thoracic spine limited motion
- Upper back skeletal deformity/signs
- Dysmorphic appearance/face
- Short stature
- Short stature Child
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Presentation/Cervical Thoracolumbar Deformities
- Demographics & Risk Factors
- Population Group
- Child
- Infant
- Population/Pediatrics population
- Family History
- Family history/Skeletal malformations
- Sex & Age Groups
- Population/Child
- Population/Children/all
- Population/Infant
- Population/Neonate-newborn
- Diagnostic Test Results
- X-RAY
- Xray/Cervical spine diagnostic
- Xray/Chest abnormal
- Xray/Anomalous rib cage/congenital
- Xray/Cervical spine abnormal
- Xray/Ribs Abnormal/Deformities
- Xray/Ribs thickened/short
- Xray/Skeletal findings
- Xray/Spine Abnormal
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Congenitally fused cervical vertebrae
- Jarcho Levin Spondylocostal dysplasia
- Kyphoscoliosis
- Malformed cervical vertebrae/fusions
- Pneumonia of newborn
- Pneumonia, recurrent
- Respiratory neonatal distress syndrome
- Rib anomalies/Hypoplastic/deformed
- Skeletal dysplasia
- Skeletal/bone malformations
- Spinal anomaly, congenital
- Thoracic deformity/congenital
- Vertebrae Anomalies
- Vertebral anomalies
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Neck disorder (ex)
- CLASS/Axial skeletal involvement/disorder (ex)
- CLASS/Rib involvement/disorder (ex)
- CLASS/Skeletal (category)
- CLASS/Vertebra/Spine disorder (ex)
- Pathophysiology
- Pathophysiology/Maternal Chromosome mutation
- Process
- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Congenital/developmental (category)
- PROCESS/Eponymic (category)
- PROCESS/Genetic disorder/Spontaneous mutations/sporadic
- PROCESS/Hereditary Multiple anomalies syndrome [EX]
- PROCESS/Hereditofamilial (category)
- PROCESS/Multiple dysmorphic syndrome (ex)
- PROCESS/Anomalies/Deformities/Malformations (EX)
- PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
- PROCESS/Dystostosis/craniofacial (ex)
- PROCESS/Dysplasia disorder/Syndromes (ex)
- Definition
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Jarcho Levin Syndrome; Spondylocostal Dysplasia - Type I; Spondylothoracic Dysplasia; Jarcho-Levin Syndrome; characterized by malformations of bones of the spinal column (vertebrae) and ribs; respiratory insufficiency; in infants the trunk may appear abnormally short due to fusion
of many vertebrae, incomplete development (dysplasia) ; hemivertebrae; fusion of some ribs, and other rib malformations; Malformed cervical vertebrae may cause short neck, limited neck motion, and an abnormally low hairline; infants abdomen may be abnormally prominent and the arms and legs seem long; in most cases, infants with Jarcho-Levin Syndrome experience respiratory insufficiency and are prone to repeated pneumonia; thought to be inherited as an autosomal recessive genetic trait---------------[NORD]------------------
(Edit)
- External Links Related to Jarcho-Levin Spondylocostal dysplasia Syndrome
- 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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