Is Russell Silver Syndrome hereditary?

Russell Silver Syndrome (RSS) is a rare genetic disorder characterized by growth retardation and various physical abnormalities. It is considered a hereditary condition, meaning it can be passed down from parents to their children. However, the inheritance pattern of RSS is complex and not fully understood.

Research suggests that some cases of RSS are caused by genetic mutations that occur spontaneously, meaning they are not inherited from either parent. These cases are referred to as sporadic or de novo mutations. In sporadic cases, the affected individual is typically the only person in the family with RSS.

On the other hand, some individuals with RSS have inherited the condition from one of their parents. In these cases, the inheritance pattern can vary. RSS can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation involved.

In autosomal dominant inheritance, a person only needs to inherit one copy of the mutated gene from either parent to develop RSS. If one parent has RSS, there is a 50% chance of passing the condition on to each child.

In autosomal recessive inheritance, both parents must carry a copy of the mutated gene for their child to develop RSS. If both parents are carriers, there is a 25% chance of their child inheriting RSS.

It is important to note that genetic testing and counseling can provide more accurate information about the specific inheritance pattern in individual cases of RSS. Consulting with a healthcare professional or a genetic counselor is recommended for families affected by RSS or those concerned about the risk of passing it on to their children.