Hello, Welcome, I hope you find the following blog informative, easy to follow and including a bit of humour as you read about my life and experiences with RSS . This blog is a brief overview of some of my more memorable health issues that can be associated with RSS/SRS . If you would like to read further blogs about my growth, health, social and educational experiences, especially in childhood and teenage years please let me know in the comments section below.
Russell Silver Syndrome or also known as Silver Russell Syndrome in basic terms is
Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure. This disorder includes feeding difficulties and/or low BMI, dysmorphic features including a protruding forehead, and frequently body asymmetry (hemihypotrophy). The true incidence is unknown but is estimated at 1 per every 35,000 – 100,000 live births.
It was way back in 1953 and 1954 that Dr. Silver and Dr. Russell independently described groups of small-for-gestational-age [SGA] children whose pregnancies had been complicated by intrauterine growth restriction [IUGR]. Their common findings were short stature without catch-up growth, normal head size for age, a distinctive triangular face, low-set ears and in-curving 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 North America, and Silver-Russell syndrome [SRS] in Europe.
- body asymmetry – LARGE side is the “normal” side*
- large head size for body size*
- broad protruding forehead*
- low-set, posteriorly rotated &/or prominent ears
- clinodactyly (inward curving) of the 5th finger (pinky)*
- syndactyly (webbing) of the 2nd and 3rd toes*
- inadequate catch-up growth in first 2 years
- persistently low weight-for-height*
- lack of muscle mass and/or poor muscle tone*
- hypoplastic (underdeveloped) chin & midface
- downturned corners of mouth*
- thin upper lip
- high-arched palate
- small, crowded teeth
- unusually high-pitched voice in early years
- café-au-lait (coffee-with-milk) birth marks
- dimples in the posterior shoulders and hips*
- narrow, flat feet
- scoliosis (curved spine, associated with spinal asymmetry & accentuated by a short leg)
- prominent heels [mUPD7 primarily]*
- autism [mUPD7 children primarily]*
- myoclonus dystonia (movement disorder) [mUPD7 primarily]
Characteristics of both Small-for-Gestational-Age Children and Russell-Silver Syndrome Patients:
- lack of interest in eating
- fasting hypoglycemia & mild metabolic acidosis
- generalized intestinal movement abnormalities:
- esophageal reflux resulting in movement of food up from stomach into food tube
- delayed stomach emptying resulting in vomiting or frequent spitting up
- slow movement of the small intestine &/or large intestine (constipation)
- late closure of the anterior fontanel (soft spot)
- frequent ear infections or chronic fluid in ears
- congenital absence of the second premolars
- delay of gross and fine motor development
- delay of speech and oral motor development
- kidney abnormalities
- delayed bone age early, later fast advancement
- early pubic hair and underarm odor (adrenarche)
- early puberty or rarely true precocious puberty
- classical or neurosecretory growth hormone deficiency
- ADD and specific learning disabilities
- blue sclera (bluish tinge in white of eye)
- hypospadias (abnormal opening of the penis)
- cryptorchidism (undescended testicles) -Source http://www.magicfoundation.org
For information about Russell Silver Syndrome see links below.
https://www.healthline.com/health/russell-silver-syndrome#symptoms
http://littlepeopleuk.org/information-about-dwarfism-conditions/types-of-dwarfism/primordial-dwarfism/russell-silver-syndrome
https://magicfoundation.org/Growth-Disorders/Russell-Silver-Syndrome/
http://childgrowthfoundation.org/conditions/rss-iugr-sga
In Childhood
Personally I had many of the characteristics mentioned in the list above.
I was also born with a cleft palate, the soft palate, also I have a high arch to the palate (only palate not lip) Drs thought that my palate did not develop properly in utero perhaps my tongue was in the way as it was forming. It could not be repaired at birth as they wanted to wait until I was 10lbs in weight so I had the operation as 2yrs 2weeks old, that was when I reached 10lbs. My parents recall that until my surgery I could not form words though I could make sounds which I thought were words as I repeated the same sound for certain words, ie David was always pronounced by me as LALA. Following my surgery I had a short course of speech therapy and have not stopped talking since haha. A funny anecdote my mum remembers was when I had my palate operation the nurses put tubes on my arms, like toilet roll tubes, to stop me putting my fingers in my mouth and disturbing stitches as I sucked 2 of my fingers. Mum gave a me a small chocolate bar as a treat forgetting that I couldn’t reach my mouth with my arms and couldn’t help but laugh as I tried to reach my mouth. In the end she did help me and save me from my torment LOL
https://www.webmd.com/oral-health/cleft-lip-cleft-palate
I had a lot of ear trouble in childhood, I can still remember the pain and the feeling of being very hard of hearing. The best way I can explain it now is that is was like being permanently under water and all sounds are very dull and a bit echo-y. The pain was and still can be unbearable as its piercing and stabbing sensations and you just cant escape it. I did not realise myself I could not hear, rather it was my dad who realised. I was about 5 or 6 when he noticed that I didn’t answer him when he called me so he went to the side of me and got my attention then he realised I couldn’t hear but had learned to lip read without thinking about it or saying I couldn’t hear.
I had numerous surgeries to implant grommets, see pics below, and can still recall the hospital visits. I was so small that at an age of being in a bed at home I could still fit in the old large hospital cots and be bathed in the sink in the room. Living on a remote Scottish Island these hospital trips meant flights to Aberdeen Sick Children’s Hospital, where I was also born due to Drs knowing I would be born small and may need more specialised treatment than the local hospital could provide back in 1978.
I was born with dislocate hips my left hip worse than my right and that had to be operated on at approx age 10months. From birth I had to wear splints including the one pictured below which was affectionately known as a frog splint, on top 2 terry towel cloth nappies, as while wearing it my legs looked like those of a frog. The Drs chose this form of treatment as usually in cases like these they would opt to use a plaster cast to immobilize the joints but the plaster cast would have been as heavy as me, probably heavier. My great-uncle remembers me finding my own ways to get about, determined little lass even then.
In Adulthood
These health risks in adulthood include the following-
Metabolic syndrome/Syndrome X, which includes:
- Obesity
- Insulin resistance/Type II diabetes
- High blood pressure, especially systolic
- Dyslipidemia
- Coronary heart disease
- Cerebrovascular disease
- Polycystic ovarian syndrome (PCOS) [females]
Other possible health risks include:
- Uterine and vaginal dysgenesis [11p15 RSS females]
- Gonadal hypofunction/testicular cancer [males]
- Fertility/transmission of Russell-Silver Syndrome to offspring
- Low muscle mass/low bone mineral density
- Autonomic dysfunction*
- Myoclonus dystonia [mUPD7 RSS]
- Functional issues related to the skeletal system* (body asymmetry, scoliosis/kyphosis, muscle/back pain) -Source http://www.magicfoundation.org
My full adult height is approx 4’3.5″, growth hormone treatment was not a viable option for me, which I will discuss in a future blog.
At around age 35 I took part in a research study for adults with RSS/SRS and was offered genetic testing. After years of being diagnosed via clinical characteristics I also tested for the RSS 11p15 genetic diagnosis. The clinical facial characteristics which aided in my diagnosis in childhood have lessened with age, as with a lot of RSS adults. I still however have one obviously clear clue to my being RSS, apart from the obvious short stature. I still have fifth-finger clinodactyl (when the pinky fingers curve toward the fourth fingers)
The curve on my right hand is more obvious but to be honest I don’t dislike them or feel self-conscious about them. If my hands are full the curved pinkies act like a hook to hold my car keys HaHa. As a child I remember my mum trying to splint them with lolly sticks and tape to try to make them straight and also I tried a few times to flatten them inside a big book, needless to say those endeavours were futile. Now I see them as part of me being unique and also an easily identifiable id for me. My left finger may have been straighter due to me playing the violin for a while and stretching it to reach the chords.
Other features I have of RSS are small jaw (for which I had teeth removed in childhood due to overcrowding) and in adult life at various stages all my wisdom teeth removed for the same reason. I have asymmetry, my right side is my average though my left hand is bigger than my right. I have many other health issues, some RSS/SRS related some not. I have also had major leg operations to correct valgus deformities (knock knees) which, in the surgeons opinion was most likely related to my RSS, due to shallow hips sockets, short legs and patella tracking. Warning some photos below of wounds.
My blog is personal to me. I am not speaking for others with various forms of dwarfism/short stature. I can only give my personal views and experiences of my life as an adult with Russell Silver Syndrome.
Please feel free to leave comments or questions and to share this blog with others.
Chat again soon x
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