About Silver-Russell syndrome

What is Silver-Russell syndrome?

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by slow growth before and after birth, a triangular face, and a small head size (microcephaly). Other features may include low birth weight, feeding difficulties, and developmental delays. SRS is caused by an abnormality in the imprinting process, which is the way certain genes are expressed. Treatment is based on the individual's symptoms and may include growth hormone therapy, nutritional support, and physical and occupational therapy.

What are the symptoms of Silver-Russell syndrome?

The most common symptoms of Silver-Russell syndrome include:

-Low birth weight and slow growth
-Small head size (microcephaly)
-Distinctive facial features, including a triangular face, a prominent forehead, and a small lower jaw
-Feeding difficulties
-Delayed motor development
-Delayed speech and language development
-Behavioral problems
-Learning difficulties
-Hearing and vision problems
-Heart defects
-Kidney problems
-Skeletal abnormalities, such as Scoliosis and curved pinky fingers

What are the causes of Silver-Russell syndrome?

Silver-Russell Syndrome (SRS) is a rare genetic disorder that is caused by an abnormality in the imprinting process. Imprinting is a process in which certain genes are turned on or off depending on which parent they come from. In SRS, the abnormality is caused by a mutation in the imprinting control region (ICR) of chromosome 11. This mutation can be inherited from either parent, or it can occur spontaneously. Other causes of SRS include uniparental disomy (UPD), which is when both copies of a chromosome come from the same parent, and mosaic UPD, which is when some cells have two copies of a chromosome from one parent and some cells have two copies from the other parent.

What are the treatments for Silver-Russell syndrome?

The treatments for Silver-Russell syndrome vary depending on the individual and the severity of the condition. Generally, treatments focus on managing the physical and developmental symptoms of the condition. These may include growth hormone therapy, nutritional supplements, physical therapy, occupational therapy, speech therapy, and psychological counseling. In some cases, surgery may be recommended to correct physical abnormalities.

What are the risk factors for Silver-Russell syndrome?

The exact cause of Silver-Russell syndrome is unknown, but there are several risk factors that may increase the likelihood of developing the condition. These include:

• Advanced maternal age (over 35 years old)
• Family history of Silver-Russell syndrome
• Maternal diabetes
• Maternal obesity
• Maternal smoking
• Maternal alcohol consumption
• Maternal exposure to certain medications or environmental toxins
• Low birth weight
• Premature birth
• Chromosomal abnormalities

Is there a cure/medications for Silver-Russell syndrome?

At this time, there is no cure for Silver-Russell syndrome. However, there are medications and treatments available to help manage the symptoms. These include growth hormone therapy, nutritional supplements, and medications to help with appetite and sleep. Additionally, physical and occupational therapy can help with motor skills and coordination.