Robinow syndrome

Overview

What is Robinow syndrome?

Robinow syndrome is an extremely rare skeletal dysplasia (bone abnormality) disorder that can affect both males and females and usually presents with short stature, some skull and facial abnormalities, skeletal abnormalities, and in some cases, genital (sex organs) abnormalities. There are two different types of Robinow syndrome, distinguished by the severity of the symptoms and the patterns of inheritance.

The recessive form of Robinow syndrome (ROR2-related Robinow syndrome) is caused by a mutation, or change, in the ROR2 gene. A mutation is a permanent change in the DNA sequence (genetic code) that makes up a gene. Mutations can range in size and can affect anywhere from a single DNA building block of a gene code, called a base pair, to a large segment of a chromosome (a packaged and thread-like looking structure in the cell that contains many genes). The autosomal dominant Robinow syndrome (ADRS) is caused by mutations, or changes, in the WNT5A or DVL1 genes. A mutation in the DVL1 gene causes a specific type of dominant Robinow syndrome, called the osteosclerotic form of Robinow syndrome. Approximately 10 families have been identified to have this form of the disease.

As of March 18, 2016, there is no cure for Robinow syndrome. The treatment of Robinow syndrome is directed towards treating the specific symptoms of an individual. Treatment plans may require the coordinated effort of pediatricians, orthopedists, cardiologists, physical therapists, and other health care professionals. A genetic counselor can be helpful in education on Robinow syndrome and support. To locate a genetic counselor, please visit www.nsgc.org and click the "Find a Genetic Counselor" link.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/robinow-syndrome/overview/5771 • DATE UPDATED: 2016-06-15

References

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