Summary about Disease
Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction (IUGR) and postnatal growth failure, leading to short stature. Other common features include a triangular-shaped face, a prominent forehead, body asymmetry (hemihypertrophy), and feeding difficulties in infancy. The severity of symptoms can vary significantly among affected individuals.
Symptoms
Intrauterine Growth Restriction (IUGR): Low birth weight and length for gestational age.
Postnatal Growth Failure: Continued slow growth after birth, resulting in short stature.
Triangular-Shaped Face: Distinctive facial features.
Prominent Forehead: A forehead that appears larger than typical.
Body Asymmetry (Hemihypertrophy): One side of the body may be larger than the other.
Feeding Difficulties in Infancy: Poor appetite and difficulty gaining weight.
Curved Pinky Finger (Clinodactyly): Often inward curving.
Fifth Finger Clinodactyly
Low Muscle Mass
Delayed Bone Age
Speech Delays
Hypoglycemia (low blood sugar), especially in infancy.
Excessive Sweating:
Gastrointestinal problems: Including constipation, poor appetite
Causes
SRS is a genetically heterogeneous disorder, meaning it can be caused by different genetic mechanisms. The most common causes are:
Epigenetic Alterations on Chromosome 11p15: Abnormal gene expression in this region, often involving loss of methylation on the paternal allele of H19 or maternal uniparental disomy (UPD) of chromosome 7.
Maternal Uniparental Disomy (UPD) of Chromosome 7: Inheriting both copies of chromosome 7 from the mother and none from the father.
Gene Mutations: Mutations in certain genes, such as IGF2 (less common).
Unknown Causes: In a significant proportion of cases, the underlying genetic cause remains unknown.
Medicine Used
4. Medicine used
Growth Hormone Therapy: Recombinant human growth hormone is often used to improve growth and final adult height.
Nutritional Support: High-calorie formulas or feeding tubes may be necessary to address feeding difficulties and ensure adequate nutrition, especially in infancy.
Other Medications: Depending on specific symptoms, other medications may be used to manage issues such as hypoglycemia or gastrointestinal problems.
Is Communicable
No, Silver-Russell Syndrome is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
While SRS is not contagious, precautions involve managing symptoms and preventing complications:
Careful Monitoring of Growth: Regular monitoring of growth parameters (height, weight, head circumference) by a pediatrician or endocrinologist.
Nutritional Management: Ensuring adequate nutrition through appropriate feeding strategies and supplementation if needed.
Early Intervention: Addressing developmental delays with therapies such as speech therapy, physical therapy, and occupational therapy.
Blood Glucose Monitoring: Regular blood sugar checks, especially in infancy, to prevent and manage hypoglycemia.
Sun Protection: Skin examination and sun protection due to higher incidence of some skin conditions and potential cancer risk.
How long does an outbreak last?
Silver-Russell Syndrome is not an outbreak or infectious disease. It is a chronic genetic condition that persists throughout a person's life. Symptoms and associated health considerations are ongoing and require long-term management.
How is it diagnosed?
Diagnosis is based on a combination of clinical findings and genetic testing:
Clinical Evaluation: Assessment of growth parameters, physical features, and developmental milestones. Scoring systems have been developed to aid in diagnosis, such as the Netchine-Harbison Clinical Scoring System (NH-CSS) or the Silver-Russell Syndrome Clinical Scoring System (SRS-CSS).
Genetic Testing:
Methylation Studies: To detect epigenetic alterations on chromosome 11p15.
Chromosomal Microarray Analysis (CMA): To identify copy number variations (CNVs).
Uniparental Disomy (UPD) Testing: To detect maternal UPD of chromosome 7.
Gene Sequencing: To identify mutations in specific genes like IGF2.
Timeline of Symptoms
9. Timeline of symptoms
Prenatal: Intrauterine growth restriction (IUGR) is evident during pregnancy, leading to low birth weight and length.
Infancy: Feeding difficulties, hypoglycemia, and slow growth are common.
Childhood: Short stature becomes more pronounced, and body asymmetry may become noticeable. Developmental delays in speech and motor skills may be present.
Adolescence and Adulthood: Continued short stature, though growth hormone therapy can improve adult height. Monitoring for associated medical conditions, such as metabolic issues, is important throughout life.
Important Considerations
Variability: The severity of symptoms can vary significantly between individuals with SRS.
Genetic Counseling: Genetic counseling is recommended for families with a child diagnosed with SRS to understand the inheritance patterns and recurrence risk.
Multidisciplinary Care: Management of SRS requires a multidisciplinary approach involving pediatricians, endocrinologists, geneticists, nutritionists, and therapists.
Early Intervention: Early diagnosis and intervention can help optimize growth and development.
Differential Diagnosis: It's important to differentiate SRS from other growth disorders with similar features.
Adult Monitoring: Adults with SRS should have regular monitoring of metabolic health, including glucose and lipid levels, as they may be at increased risk for certain conditions.