Russell-Silver syndrome (RSS) is a rare genetic disorder causing poor growth before and after birth, resulting in low birth weight, short stature, and a large head relative to body size (relative macrocephaly). Key features include a prominent forehead, triangular face, body asymmetry (one side smaller), and significant feeding difficulties, though intelligence is usually normal, and features often become less pronounced with age. It's a complex genetic condition, often linked to chromosome 7 or 11, but the exact cause isn't identified in all cases.
Life expectancy of individuals with RSS is not thought to be affected. Aside from the hallmark features of poor growth and body asymmetry, RSS can be accompanied by other clinical features and symptoms. The main clinical features and symptoms of RSS are listed below.
Low birth weight. Short height, short arms, stubby fingers and toes. All or part of one side of the body is smaller than the other side (asymmetry) Stomach and intestine problems such as acid reflux and constipation.
With early intervention and treatment, Russell-Silver syndrome isn't a life-threatening condition. A team of specialists will work with you and your child so they can go on to lead a normal, healthy life.
Most cases are not inherited from a parent and occur sporadically. In rare cases, RSS may be inherited - in an autosomal dominant or autosomal recessive manner. Treatment is focused on managing the symptoms of RSS.
Many people with Silver-Russell syndrome have a small, triangular face with distinctive features, including a prominent forehead , a narrow chin , a small jaw , and downturned corners of the mouth .
Around 90% of autism cases are attributed to genetic factors, meaning autism is highly heritable, with many different genes contributing, rather than a single cause, often interacting with environmental influences during early brain development, though specific environmental factors don't cause it but can increase risk. Twin studies show strong genetic links, with concordance rates between 60-90% in identical twins, and research points to complex interactions of many genes and prenatal/perinatal factors.
Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
The first-trimester biochemical markers, including PAPP-A and β-hCG, were within the normal range. A further evaluation, including amniocentesis and genetic testing, was performed. Results: Genetic testing identified hypomethylation at the 11p15 imprinting control region, confirming the diagnosis of SRS.
Nature of growth in Russell Silver Syndrome
The hallmark of RSS is short stature. The birth weight of affected infants is typically two or more SD below the mean, and postnatal growth two or more SD below the mean for length or height. Growth velocity is normal in children with RSS.
medwireNews: Researchers have found reduced brain volume in children with Silver-Russell Syndrome (SRS), as well as cognitive impairment that is dependent on the underlying genetic defect.
Notable modern pop cultural figures with growth hormone deficiency include actor and comedian Andy Milonakis, who has the appearance and voice of an adolescent boy despite being in his 40s. Argentine footballer Lionel Messi was diagnosed at age 10 with growth hormone deficiency and was subsequently treated.
Adults with Russell- Silver syndrome are short; the average height for affected men is about 151 centimeters (4 feet, 11 inches) and the average height for affected women is about 140 centimeters ( 4 feet, 7 inches).
Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.
Williams syndrome is a rare genetic condition present from birth. People living with Williams syndrome share similar facial features. They experience developmental delays and are affected by health problems later in life. To diagnose Williams syndrome, your doctor will do a blood test.
Other features can include the delayed development of motor skills, speech and language problems, and learning disabilities. It is estimated that 1 in 30,000 to 1 in 100,000 people in the world have Silver-Russell syndrome. The genetic causes of Silver-Russell syndrome are complex.
Silver-Russell Syndrome (SRS) is characterized by intrauterine growth restriction resulting in affected individuals being born small for gestational age with relative macrocephaly (head circumference ≥1.5 standard deviations [SD] above birth weight and/or length), a prominent forehead usually with frontal bossing, and ...
The First Trimester Test is performed between 10 and 13 completed weeks of pregnancy to screen for Down syndrome - this test is not used to screen for open neural tube defects. It combines information from an ultrasound examination of your baby with maternal blood analysis. It is suitable for women of all ages.
An infant with RSS is generally born with normal intelligence. Learning disabilities and Attention Deficit Disorder (ADD) appear to be increased in incidence in children born IUGR/SGA for unknown reasons.
Achondroplasia. About 80% of people with achondroplasia are born to parents of average height. A person with achondroplasia who had two average-sized parents received one changed gene related to the condition and one regular gene.
Depending on how your condition affects you, you may be eligible for disability benefits to help with the costs of adaptations and support.
This might be due to a developmental delay, being a very picky eater, a medical condition that affects swallowing (like cerebral palsy or a cleft palate), or a condition like autism in which kids don't like eating foods with some textures or tastes.
The "6-second rule" for autism is a communication strategy where a speaker pauses for about six seconds after asking a question or giving information, giving the autistic person extra time to process it without feeling rushed, which helps reduce anxiety and allows for a more thoughtful response, reducing frustration for both parties. Instead of repeating or rephrasing, which can be confusing, you wait, and if needed, repeat the exact same words after the pause.
While the exact reasons are not yet clear, changes in how the disorder is defined, increases in screening, and more awareness certainly contribute to this increase. If you have any concerns about your child's development, speak to a healthcare professional about diagnostic tests.
Additionally, inherited genetic variations contribute greatly. Research shows that both mothers and fathers can carry autism-related gene variants. Some of these are common variants that increase the risk of autism, while others are rare mutations causing more severe effects.