Silver-Russell dwarfism

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 11748
ICD10 = ICD10|Q|87|1|q|80
ICD9 = ICD9|759.89
ICDO =
OMIM = 180860
MedlinePlus = 001209
eMedicineSubj = ped
eMedicineTopic = 2099
MeshID =

Silver-Russell dwarfism, also called Silver-Russell syndrome (SRS) or Russell-Silver syndrome (RSS) is a growth disorder occurring in approximately 1/75000 births. In the United States it is usually referred to as Russel-Silver Syndrome, and Silver-Russell Syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable. Its exact cause is unknown, but present research points toward a genetic component, possibly following maternal genes. There is no statistical significance of the syndrome occurring in males or females.

Diagnosis

Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. The syndrome is usually caused by an mUPD (maternal uniparental disomy) on chromosome 7, in 10% of the cases, which is an imprinting error where the person receives two copies of chromosome 7 from the mother (maternally inherited).As a 'syndrome' a diagnosis is typically given for children upon confirmation of the presence of several 'symptoms' listed below.cite web |url=http://www.patient.co.uk/showdoc/40001427/ |title=Russell-Silver Syndrome |format= |work=patient.co.uk |accessdate=] Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following:
* Often small for gestational age (SGA) at birth (birth weight less than 2.8kg).
* Feeding problems: the baby is uninterested in feeding and takes only small amounts with difficulty.
* Hypoglycaemia (low blood sugar)
* Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of hypoglycemia.
* Triangular shaped face with a small jaw and a pointed chin, this lessens slightly with age. The mouth tends to curve down.
* A blue tinge to the whites of the eyes in younger children.
* Head appears large: the head circumference may be of normal size, which means it can appear large in comparison to a small body size.
* Wide and late-closing fontanelle.
* Clinodactyly: 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 growth chart.
* Precocious puberty (occasionally).
* Low muscle tone.
* Gastroesophageal reflux.
* Usually sporadic
* A striking lack of fat

Treatment

The calorific intake of children with RSS must be carefully controlled in order to provide the best opportunity for growth, if the child is unable to tolerate oral feeding then enteral feeding may be used, such as the percutaneous endoscopic gastrostomy.
In children with limb-length differences or scoliosis physiotherapy can alleviate the problems caused by these symptoms, in more severe cases surgery to lengthen limbs may be required. To prevent aggravating posture difficulties children with leg length differences may require a raise in their shoe.
Growth hormone therapy is often prescribed as part of the treatment of RSS. The hormones are given by injection typically daily from the age of 2 years old through teenage years. It may be effective even when the patient does not have a Growth Hormone deficiency. Growth Hormone therapy has been shown to increase the rate of growth in patients [cite journal |author=Rakover Y, Dietsch S, Ambler GR, Chock C, Thomsett M, Cowell CT |title=Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW) |journal=Eur. J. Pediatr. |volume=155 |issue=10 |pages=851–7 |year=1996 |pmid=8891553 |doi= |url=http://link.springer.de/link/service/journals/00431/bibs/6155010/61550851.htm] and consequently prompts 'catch up' growth. This may enable the child to begin their education at a normal height, improving their self-esteem and interaction with other children. The effect of growth hormone therapy on mature and final height is as yet uncertain [ [http://www.childgrowthfoundation.org/iugr_rss.htm Child Growth Foundation Russell Silver Syndrome ] ] . There are some theories suggesting that the therapy also assists with muscular development and managing hypoglycaemia.

Eponym

It is named for Henry Silver and Alexander Russell. [WhoNamedIt|synd|2892] [cite journal |author=Russell A |title=A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples) |journal=Proc. R. Soc. Med. |volume=47 |issue=12 |pages=1040–4 |year=1954 |pmid=13237189 |doi= |url=] [cite journal |author=Silver HK, Kiyasu W, George J, Deamer WC |title=Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins |journal=Pediatrics |volume=12 |issue=4 |pages=368–76 |year=1953 |pmid=13099907 |doi= |url=]

References

External links

*http://www.magicfoundation.org/
* [http://www.magicfoundation.org/www/docs/112/russell_silver_syndrome.html Information on Russell-Silver Syndrome from MAGIC foundation]
*http://www.childgrowthfoundation.org
* [http://www.rss-support.nl Russell-Silver Syndrome Support - www.rss-support.nl]


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