Russell Silver syndrome is a congenital disorder that leads to abnormal development of the body. Some of its distinctive features include short or stunted height, weak and non-standard development and growth, low weight during birth, and one side of the body may be of a different size than the other. This abnormal growth disorder was 1st noticed by Silver and his friends in the year 1953. Russell verified the same signs via his research the next year.
Russell Silver syndrome is an uncommon condition and is said to affect 1 person in fifty thousand to one hundred thousand live births. This disorder falls in the category of 200 types of dwarfism, and is also considered as one of the five types of primordial dwarfism. Till date, only some 100 reports of Russell Silver syndrome have been brought to notice. But the fact is that a lot more cases of this condition have either not been reported or detected.
The good thing is that this disorder is a type of dwarfism which can be fully cured with the help of medicines and therapies. Some treatments for this syndrome include intake of growth hormones and other medicines, proper intake of adequate calories, maintaining a good diet plan, and physical therapy.
Signs and symptoms of Russell Silver syndrome are more visible in children suffering from this disorder, but it tends to disappear as they slowly grow and develop. Some characteristic signs and symptoms, as per the body parts affected, include:
- The head is of normal size. The face is triangular and visibly smaller in size. Yet, because of the short stature of a Russell Silver syndrome affected person, the head seems to be unusually big.
- The sclera or the whites of the eyes can have a blue tinge.
- The forehead is raised and narrows into a small jaw.
- The corners of mouth slant downwards. The bridge of the nose is noticeable and prominent.
- Developmental problems
- Poor muscle mass, or poor muscle functioning, or both can lead to impaired motor activities.
- A large or big head in relation to the torso and neck can result in weak control of the head
- Almost fifty percent of the Russell Silver syndrome affected children suffer from learning disabilities which includes difficulties in communication, arithmetic, and language.
- General growth and development
- The birth weight of the syndrome affected child is lesser than the normal weight
- In comparison to normal standards the postnatal growth is poor
- Unbalanced and uneven growth is obvious
- The occipital-frontal circumference is regular in spite of growth retardation
- Abnormalities of the skeleton
- The little finger may be bent inwards
- Abnormal and asymmetrical growth of limbs
- The fontanel may experience delay in full closure
- Each part of the body can look dissimilar in size in comparison to other parts.
- Fingers may elicit fixed flexion
- Toes may be joined together
- The neck may appear to be too short. It may also be webbed to the torso.
- Gastrointestinal anomalies
- Affected individuals may have a high risk of extremely low sugar level in blood during infancy and/or fasting.
- Russell Silver syndrome affected child may also have several feeding problems which includes gastro-esophageal reflux, dislike of certain or all foods, esophagitis, and failure to thrive and grow.
- Other irregularities
- Abnormal look/appearance of the body may lead to lack of self-esteem and social and emotional problems.
- If the jaw is too thin, receding, or too small, then there occurs speaking and conversation problems.
- Heart irregularities/improper functioning of the heart
- Excess sweating of scalp and the upper body
- Irregularities of the genital and urinary systems
- There is an increased risk of development of some tumors.
The reason for Russell Silver disorder is not known clearly. It is said that the condition happens by chance and research statistics have found out genetic abnormalities as being among the few reasons for this syndrome. However, the genetic causes cannot be identified clearly. Both males and females are at equal risk to developing this disorder.
- Some studies have connected growth abnormalities and mutations to defects in chromosome 11
- Genomic imprinting and placental mosaicism also play a vital role in development of several signs of Russell Silver syndrome
- Pregnancy at the age of over thirty-five years raises the risk of developing this syndrome
Some of the treatments that can be opted to lessen the symptoms include the following:
- Regulation of the consumption of the calories so that the affected individual may get the maximum advantage and good growth from added nutrition.
- Growth hormone therapy is mostly advised to treat Russell Silver syndrome. In this therapy, hormones are injected daily through an injection. This therapy starts when the infant is about 2 years old and will go on till his/her teenage years. The therapy helps in improving the development rate which in turn uplifts their self-esteem and helps in social and emotional issues.
- If required, asymmetrical limbs and body parts can be treated through surgeries, and/or physiotherapies.