Russell-Silver Syndrome
Even though the WWGF do not provide support to individuals and families affected by Russell Silver Syndrome we thought it would be useful to explain somethings about this sub-type of Primordial Dwarfism.
If you are a parent, carer or individual looking for more information and support for Russell Silver there are two well established and recognised organisations to set up to help you.
These are:
Please contact these organisation in the first instance if you have any queries or need advice.
Russell Silver Syndrome (RSS) is one of the most recognised forms of Primordial Dwarfism. It was first independently described by H. K. Silver in 1953 and by A. Russell in 1954.
Russell Silver Syndrome is very rare occurring in approximately 1/75000 births. Little is known about the cause of this condition, in the majority of families only one child is affected but very occasionally families do have more than one affected child. This may suggest a genetic basis for this condition and this is the subject of much research.
Diagnosis
A low birth weight is defined as a baby born with a weight that is inappropriately low for the duration of the pregnancy - for a baby born at term this would be a birth weight less than 2.5kg. The inappropriately low weight indicates that the growth of the baby in the womb has been unsatisfactory and this is why is is called Intrauterine Growth Retardation.
The majority of babies born small for their gestational age show catch-up growth over the first two or three years of life. However, in about a third complete catch-up growth does not occur. These children remain small and fail to reach their genetic potential as defined by their parental heights.
The diagnosis of Russell Silver syndrome is similar to IUGR and is based on comparison of the babies weight centile at birth with standards which take into account the gestational age of the baby, ideally infant length should also be taken into account.
Symptoms
- Feeding problems - early feeding problems are common. The baby is often disinterested in feeding and takes only small amounts with difficultySweating - the babies sweat a lot, especially at night, and have a greyness or pallor of the skin. In some infants, this is a symptom of a low level of sugar in the blood (hypoglycaemia). As they get older, these infants/children may have altered behaviour, such as hyperactivity or, conversely, tiredness, as a symptom of their low blood sugar level
- Face - the face is triangular shaped with a small jaw and a pointed chin. The mouth tends to curve down
- Eyes - a blue tinge to the whites of the eyes in younger children
- Head - the head circumference may be of normal size, which means it can appear large in comparison to a small body size
- Fontanelle - the opening between the bones of the skull, the fontanella, may be very wide and late to close in babies
- Clinodactaly - the little finger on each hand may be small and curve inwards
- Body asymmetry - one side of the body grows more slowly than the other
- Continued poor growth - with no "catch up" into the normal centile lines on the growth chart
- Puberty - may commence at an early age
Acknowledgements
The information above has been kindly obtained with permission from the Child Growth Foundation and is summarised from the booklet "Intrauterine Growth Retardation (IUGR) including Russell Silver Syndrome - A Guide for parents and patients" available from the CGF web site.
Disclaimer
Please note the information on the individual pages within the About Primordial Dwarfism menu does not replace individual medical advice or provides a diagnosis. If any parent or guardian visiting this site thinks their child has a form of Primordial Dwarfism, they should consult a local Clinical Geneticist or ask their local pediatrician/doctor to make a referral to one of our doctors on our medical review board.