To use all functions of this page, please activate cookies in your browser.
With an accout for my.bionity.com you can always see everything at a glance – and you can configure your own website and individual newsletter.
- My watch list
- My saved searches
- My saved topics
- My newsletter
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.
Additional recommended knowledge
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 on chromosome 7, in 7% 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.
Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following:
Growth hormone therapy is often prescribed as part of the treatment of SRS. The hormones are given by injection typically daily from the age of 2 years old through teenage years. It may aid growth even in cases where the patient does not have a growth hormone deficiency, and medical practitioners currently believe it can also help with other related issues such as blood sugar levels. Treatment results vary depending on dosage and the beginning age of treatment. Typically growth hormone therapy will not guarantee the child reaches their "full" height potential, but significantly more than without it. Side effects include an increase in muscle tone and irregular bone growth. It is unknown if SRS and growth hormone deficiency are linked.
short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)
overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)Marfan syndrome - Alport syndrome - Bardet-Biedl syndrome - Zellweger syndrome
|Other||spleen: Asplenia - Splenomegaly
endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst
Situs inversus - Conjoined twinsCowden syndrome - Hamartoma