Disease Information for Jarcho-Levin Spondylocostal dysplasia Syndrome

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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

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]------------------

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External Links Related to Jarcho-Levin Spondylocostal 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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