- Silver-Russell syndrome (SRS).
- Russell-Silver dwarfism.
- Silver-Russell dwarfism.
- Silver syndrome.
- Russell syndrome.
- Retarded intrauterine growth.
- Body asymmetry.
- Distinctive facial appearance.
- Developmental delays.
- Psychosocial problems.
- Cardiac defects (congenital heart disease, pericarditis, etc).
- Kidney problems, including horseshoe kidney.
- Hypoglycemia (low blood sugar levels).
- Underlying malignant conditions (such as Wilm’s tumor).
- Fanconi anemia syndrome (a genetic defect in DNA repair, known to cause cancer).
- Bloom syndrome (a genetic disorder causing short stature and increased likelihood of cancer).
- Nijmegen breakage syndrome (a genetic disorder that causes a small head, short stature, etc).
- A nutrition schedule with specific snacks and mealtimes.
- Growth hormone injections.
- Luteinizing hormone release treatments.
- Shoe lift.
- Corrective surgery.
- Physical therapy.
- Speech therapy.
- Language therapy.
- Programs on early development intervention.
The symptoms of Russell Silver syndrome may vary. Some people may have many features, while others may have few. Most of these signs are present at birth, while others appear early in childhood.
Russell Silver syndrome behavior and indications may include:
- A small jaw.
- A narrow chin.
- Prominent forehead.
- Intrauterine growth retardation (poor fetal growth).
- Low birth weight (less than 2.8kg).
- Large head about body size (relative microcephaly).
- Poor growth after birth, resulting in short stature.
- Autism spectrum.
- Feeding difficulties, such as:
- Poor appetite.
- Slow feeding.
- Problems linked with oral-motor dysfunction.
Feeding did not significantly affect the intake of kilocalories of protein, fat, or carbohydrates.
- Small triangular-shaped face.
- Down-turned corners of the mouth.
- Curbing of the pinky finger (clinodactyly).
- Delayed bone age.
- Arms and legs with different lengths (body asymmetry).
- Scoliosis (abnormal curvature of the spine).
- Changes in the skin pigment.
- Motor, speech, and/or cognitive delay.
- Gastroesophageal reflux disease (GERD) or other digestive problems.
- Blue sclera (whites of the eye turned bluish-gray).
- Cachexia (wasting syndrome).
- Excessive sweating (especially at night).
- Head circumference may be of normal size and disproportionate to small body size.
- Lack of subcutaneous fat.
- Constipation (sometimes severe).
- Precocious puberty (early development of puberty).
- Probability of having monozygotic (identical) twins.
Russell Silver Syndrome (RSS) is a genetic disorder usually caused by the abnormal regulation of certain genes that control growth. Two genetic conditions have been found to result in about 60% of RSS cases:
- Matured disomy of chromosome 7 (mat-UPD7).
This occurs when a child inherits both copies of chromosome 7 from the mother, instead of one from each of the parents.
- Abnormalities at an impaired region on chromosome 11p15.
This happens for some genes. Imprinted genes tend to be found clustered or grouped. Several imprinted genes are found in a cluster on chromosome 11p15.5. The cluster is divided into two functional regions called “imprinting center regions” (ICR1 and ICR2). These genes play a vital role in the regulation of the growth of a fetus.
Approximately 1% of RSS patients have been shown to have gene mutations in the ICF2 pathway (IGF2, HMGA2, and PLAG1) or CDKN1C. Single gene mutations (variants) are most often seen in rare familial cases of RSS as shown in Russell Silver syndrome genetics results. This was seen in 40% of children diagnosed with RSS. Further research work is needed to identify the underlying cause in this group of children.
What is Russell Silver syndrome life expectancy?
Although adolescents and adults with Russell Silver syndrome will be shorter than average, RSS does not significantly impact life expectancy. RSS is now thought to be a genetic disorder caused by abnormalities in either chromosome 7 or 11.
Is Russell-Silver syndrome a disability?
Russell-Silver syndrome is a rare genetic developmental disorder featuring prenatal and postnatal growth delays and other physical abnormalities. It is not a disability you can receive financial aids for but could result in a learning disability.
What is most likely the shape of the face of a child with Russell-Silver syndrome?
Many RSS children have small, triangular faces with distinctive facial features like prominent forehead, narrow chin, small jaw, and down-turned mouth corners.
Is Russell-Silver syndrome a form of dwarfism?
Russell-Silver syndrome is a primordial form of dwarfism, affecting 1 in every 100,000 babies per year, according to NIH.
What are the features of an RSS patient?
A Russell Silver syndrome patient usually has distinctive facial features and asymmetric limbs. Babies affected usually have difficulty feeding and growing. Adults and adolescents affected usually have a shorter-than-average height.