Disease Information for SHORT syndrome (Rieger anomaly plus)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facial loss of adipose tissue
Facies particular
Lipoatrophy face
Low birth weight/newborn/SGA/Small for gestational age
Carious teeth/child
Carious teeth/sign
Delayed dentition/teething
Teeth malformed/dysplastic
Hyperextensible digits
Lipoatrophy arms
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Slow Motor Development
Hyperextensible joints Laxity Instability
Delayed speech development/impediment
Dysmorphic appearance/face
Short stature
Short stature Child
Eye symptoms/signs
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Toddler
Associated Diseases & Rule outs
Associated Disease & Complications
Axenfeld disease/iris
Dental caries
Dental deformities/anomalies
Facial dysplasia
Neurodevelopmental disorders
Rieger anomaly/eye
SHORT syndrome (Rieger anomaly plus)
Teeth enamel hypoplastic
Disease Mechanism & Classification
Class
CLASS/Acronymic term disorder (ex)
CLASS/Pediatric disorders (ex)
CLASS/Skeletal (category)
CLASS/Anterior chamber of eye involvement/disorder
CLASS/Eyes/accessory (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Defective development anterior chamber of eye
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
SHORT syndrome (Rieger anomaly plus), Synonym/Growth retardation-Rieger anomaly, Synonym/Rieger anomaly-growth retardation, Synonym/Short stature-hyperextensibility-Rieger anomaly-teeth delay
Definition
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External Links Related to SHORT syndrome (Rieger anomaly plus)
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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