What is Silver disease?

Silver syndrome is a complex hereditary spastic paraplegia. The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting.

What is the cause of Russell-Silver syndrome?

The genetic causes of Russell-Silver syndrome are complex. The disorder often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11.

What is the life expectancy of someone with Russell-Silver syndrome?

Although adolescents and adults with Russell-Silver syndrome will be shorter than average, the syndrome does not significantly impact life expectancy. Russell-Silver syndrome is now thought to be a genetic disorder, caused by abnormalities in either chromosome 7 or chromosome 11.

Can you outgrow Russell-Silver syndrome?

During treatment, the doctor will watch your child’s thyroid hormone levels regularly. Some children naturally outgrow the disorder within a few years, but others may need to continue treatment for the rest of their lives.

What are the characteristics of Russell Silver syndrome?

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.

Where is methylation located in Russell Silver syndrome?

In genes that undergo genomic imprinting, methylation is one way that a gene’s parent of origin is marked during the formation of egg and sperm cells. Russell-Silver syndrome has been associated with changes in methylation involving the H19 and IGF2 genes, which are located near one another at 11p15.

How is Silver syndrome related to maternal disomy?

In 10% of the cases the syndrome is associated with maternal uniparental disomy (UPD) on chromosome 7. This is an imprinting error where the person receives two copies of chromosome 7 from the mother (maternally inherited) rather than one from each parent.

Can a parent have RSS due to chromosome 11p15?

If a parent has RSS due to an imprinting defect on chromosome 11p15, the risk to his/her children is thought to be low. However to our knowledge, with the exception of one report of father-to-daughter transmission of the imprinting defect, no data to determine this exact risk are available.