Disease Information for Silver-Russell syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facial Asymmetry
Facial hemihypertrophy
Facial/triangular/small physiognomy
Facies particular
Brown skin discoloration
Cafe au lait pigmentation
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Stiff fifth digits
Webbed fingers
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Intelligence normal
Slow Motor Development
Asymmetry of chest
Asymmetric Limbs
Bossing forehead,infants
Dysmorphic dwarfism/short stature
Finger contractions/flexion (clinodactyly)
Incurved/fifth fingers
Asymmetric body/build
Dysmorphic appearance/face
Lateral Asymmetry
Short stature
Short stature Child
Blue Sclera
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Preschool child/boy
Laboratory Tests
Abnormal Lab Findings - Increased
Growth hormone/STH, plasma (Lab)
URINE FSH
URINE Leutininzing hormone
Diagnostic Test Results
X-RAY
Xray/Asymmetry/skeletal
Xray/Frontal bossing, infant/Skull
Xray/Parietal bossing/Skull
Xray/Retarded skeletal maturation
Xray/Shortened long bone
Ultrasound
Ultrasound/Small fetus/gestational age/Fetal
Associated Diseases & Rule outs
Associated Disease & Complications
Congenital urinary tract malformations
Cryptorchidism
Hemihypertrophy
Limb deformities/anomalies
Neurodevelopmental disorders
Silver-Russell syndrome
Syndactyly/Webbing
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Gene locus 7p11.2
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Facial dysplasia syndrome
Pathophysiology/End-organ/no-response/growth hormone
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
RSS, Russell dwarf, Russell nanism, Russell Silver, Russell Silver dwarfism, Russell Silver syndrome, Russell Silver syndrome (disorder), Russell Silver syndrome (RSS), Russell syndrome, Russell's syndrome, SILVER RUSSELL DWARFISM, SILVER RUSSELL SYNDROME, Silver Russell syndrome (SRS), SILVER SPASTIC PARAPLEGIA SYNDROME, Silver syndrome, Silver's syndrome, SPASTIC PARAPLEGIA 17, SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET, SPG17, SRS, Synonym/Pseudohydrocephalus syndrome/congenital, Synonym/Russell syndrome, Synonym/Russell-Silver Syndrome, Synonym/Silver syndrome
Definition

A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait spots, digital anomalies, hip or elbow dislocations, and other abnormalities.

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External Links Related to Silver-Russell 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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