In 1953 and 1954, Drs. Silver and Russell independently described groups of small-for-gestational-age [SGA] children whose pregnancies had been complicated by intrauterine growth retardation [IUGR]. Their common findings were short stature without catch-up growth, normal head size for age, a distinctive triangular face, low-set ears and incurving fifth fingers. These two groups of patients are now considered to have had variations of the same disorder that we now call Russell-Silver Syndrome [RSS] in the U.S. and Silver-Russell Syndrome [SRS] in Europe.
Russell Silver Syndrome is one of only 5 types of Primordial Dwarfism. There are over 200 different types of dwarfism, all of which involve bone growth disorders (osteodysplasia) that result in short stature (adult height less than 4 ft. 10 in. tall).
Primordial dwarfism is a group of disorders in which growth is proportional but severely delayed, beginning in the womb. This results in some of the smallest people in the world.
There are several characteristics associated with children who have RSS, I have listed here just some of them that Amelie has:
- Fasting Hypoglycaemia – meaning that her blood sugar drops if she is without food or calorific intake for any length of time
- Generalized intestinal movement abnormalities such as gastro oesophageal reflux and constipation
- Body Asymmetry
- In-adequate catch up growth in the first 2 yrs
- Persistently low weight-for–height
- Lack of interest in eating
- Lack of muscle mass and/or poor muscle tone
- Broad forehead
- Large head size for body size
- Hypo plastic (underdeveloped) chin & midface
- Small, crowded teeth Low-set posteriorly rotated &/or prominent ears
- Unusually, high-pitched voice
Amelie also has Developmental Dysplasia of her hips (DDH) and scoliosis of her spine, which, in some descriptions of RSS has been documented as a characteristic but as yet we have not found any other children with reports of these problems other than Amelie.
To give you an idea of how small Amelie is, this is a picture of Amelie and her best friend Zara who is nearly 3mths younger than her!