Is Robinow syndrome hereditary?

Is Robinow syndrome hereditary?

Robinow syndrome is a rare genetic disorder that affects various parts of the body, leading to distinct physical features and potential health complications. It was first described by Dr. Meinhard Robinow in 1969, hence the name. Understanding the hereditary nature of Robinow syndrome requires delving into the underlying genetic causes and inheritance patterns.

Genetic Causes:

Robinow syndrome can be caused by mutations in two different genes: ROR2 and WNT5A. These genes provide instructions for making proteins that are involved in the development and functioning of various tissues and organs during embryonic growth. Mutations in either of these genes disrupt the normal signaling pathways, leading to the characteristic features of Robinow syndrome.

Inheritance Patterns:

The inheritance pattern of Robinow syndrome depends on the specific gene involved and whether the mutation is inherited from one or both parents.

ROR2 Mutations:

Most cases of Robinow syndrome are caused by mutations in the ROR2 gene. These mutations can occur spontaneously in an affected individual (de novo) or be inherited from an affected parent. When a parent has Robinow syndrome due to an ROR2 mutation, there is a 50% chance of passing the mutation to each child. This inheritance pattern is known as autosomal dominant.

WNT5A Mutations:

Less commonly, Robinow syndrome is caused by mutations in the WNT5A gene. Inheritance of WNT5A mutations follows an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene to have an affected child. If both parents are carriers, there is a 25% chance with each pregnancy that the child will have Robinow syndrome.

Variable Expressivity:

It is important to note that the features and severity of Robinow syndrome can vary widely among affected individuals, even within the same family. This phenomenon is known as variable expressivity. Some individuals may have mild symptoms, while others may experience more pronounced physical and health-related challenges.

Genetic Counseling:

Given the hereditary nature of Robinow syndrome, individuals or families with a history of the condition may benefit from genetic counseling. Genetic counselors can provide information about the specific genetic causes, inheritance patterns, and the likelihood of passing the condition to future generations. They can also discuss available testing options for individuals who suspect they may carry a mutation associated with Robinow syndrome.

Conclusion:

Robinow syndrome is a hereditary condition caused by mutations in the ROR2 or WNT5A genes. The inheritance pattern depends on the specific gene involved, with ROR2 mutations typically following an autosomal dominant pattern and WNT5A mutations following an autosomal recessive pattern. Genetic counseling can provide valuable guidance and support for individuals and families affected by Robinow syndrome.