Silver-Russell syndrome 1
- Synonyms
- Chromosome 7-Related Russell-Silver Syndrome
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Howard M Saal
- Madeleine D Harbison
- Irene Netchine
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Craniofacial disproportion
Craniofacial disproportion
- MedGen UID: 357916
- Concept ID: C1867114
- Finding: Finding
Abnormality of head or neck
- Downturned corners of mouth
Downturned corners of mouth
- MedGen UID: 356471
- Concept ID: C1866195
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Craniofacial disproportion
- Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Short distal phalanx of the 5th finger
Short distal phalanx of the 5th finger
- MedGen UID: 373146
- Concept ID: C1836674
- Finding: Finding
Abnormality of limbs
- Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
- MedGen UID: 322335
- Concept ID: C1834060
- Finding: Anatomical Abnormality
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of metabolism/homeostasis
- Fasting hypoglycemia
Fasting hypoglycemia
- MedGen UID: 75765
- Concept ID: C0271708
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Fasting hypoglycemia
- Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
Abnormality of the cardiovascular system
- MedGen UID: 116727
- Concept ID: C0243050
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Hepatocellular carcinoma
Hepatocellular carcinoma
- MedGen UID: 389187
- Concept ID: C2239176
- Finding: Neoplastic Process
Abnormality of the digestive system
- Hepatocellular carcinoma
- Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
- Abnormality of the eye
- Blue sclerae
Blue sclerae
- MedGen UID: 154236
- Concept ID: C0542514
- Finding: Finding
Abnormality of the eye
- Blue sclerae
- Abnormality of the genitourinary system
- Abnormality of the ureter
Abnormality of the ureter
- MedGen UID: 374455
- Concept ID: C1840382
- Finding: Finding
Abnormality of the genitourinary system
- Congenital posterior urethral valve
Congenital posterior urethral valve
- MedGen UID: 451008
- Concept ID: C0238506
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Urethral valve
Urethral valve
- MedGen UID: 120573
- Concept ID: C0266345
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Abnormality of the ureter
- Abnormality of the integument
- Cafe-au-lait spot
Cafe-au-lait spot
- MedGen UID: 113157
- Concept ID: C0221263
- Finding: Finding
Abnormality of the integument
- Cafe-au-lait spot
- Abnormality of the musculoskeletal system
- Delayed cranial suture closure
Delayed cranial suture closure
- MedGen UID: 75805
- Concept ID: C0277828
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed cranial suture closure
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Fetal growth restriction
- Neoplasm
- Craniopharyngioma
Craniopharyngioma
- MedGen UID: 41339
- Concept ID: C0010276
- Finding: Neoplastic Process
Neoplasm
- Nephroblastoma
Nephroblastoma
- MedGen UID: 10221
- Concept ID: C0027708
- Finding: Neoplastic Process
Neoplasm
- Testicular seminoma
Testicular seminoma
- MedGen UID: 1790467
- Concept ID: C5551428
- Finding: Neoplastic Process
Neoplasm
- Craniopharyngioma
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