Clinical Research

Baylor College of Medicine Dept. Molecular and Human Genetics


Information for Patients and Families

What do I need to know about testing my child for Robinow Syndrome?

Robinow syndrome (RS) is a condition caused by a change in someone’s DNA. People with RS are small for their age, have some bone problems, look more like each other than their family members. This blood test may prove that your child has RS. It may also find something that we do not understand. We may need to test the individual’s parents to learn more. This sheet will provide more details about RS and this testing. If you have more questions, please talk to a genetic counselor.

What is Robinow syndrome (RS)?

Robinow syndrome (RS) is a rare genetic condition. As with other syndromes, people with RS look alike. These children may have: small size and slow growth, short arm and leg bones, spine problems, short fingers and toes, heart or kidney problems, fused ribs, and abnormal nails. Typical facial features include a large head size (macrocephaly), broad forehead, eyes that are far apart (hypertelorism), small short nose, small chin, and low-set ears. Some people with RS have problems learning. Not everyone with RS has all of the findings or is affected to the same degree.

What causes RS?

RS can be caused by changes (mutations) in the ROR2 gene (Recessive Form). Everyone with Recessive form has two copies of the ROR2 gene, one from each parent. Genes are instructions to make proteins. When there is a change in the instructions, the protein may not be made or may not work properly. If a person has a change in both copies of the ROR2 gene, he or she will not be able to make the normal protein and will have RS. People with a change in only one copy of the ROR2 gene also have a normal copy of the gene. Thus, they do not have any signs of the disorder.

How does RS run in families?

RS can be inherited in an autosomal recessive or autosomal dominant pattern. Autosomal dominant RS (DRS) is the most common form. Individuals with mutations in ROR2 have autosomal recessive RS (RRS). This means that both parents must be carriers to have a child with RRS. Carriers have one normal copy of the ROR2 gene and one with a change. When both carriers pass the changed copy of the ROR2 gene down to their child, that child develops RRS. When both parents are carriers, there is a 25% chance with each child that they will have RRS. RRS occurs more often in families in which the parents are related and those of Turkish and Omani origin.

Can my child be tested? Can I be tested? Can my family members be tested?

The first person to be tested should be the person with RRS. Testing for mutations in ROR2 is complex. It is like reading a book and looking for spelling mistakes. You may read the whole book and miss the "typos," however when you do find them, then it is easy to test other family members (i.e. you know that the change is on page 200 in the second paragraph). When changes in ROR2 are found in the person with RRS, testing other family members, even during a pregnancy, is easy and fast.

Reasons for genetic testing for RRS:

• confirm the diagnosis
• check if other family members are carriers
• provide information and resources for future pregnancies
• provide information during a pregnancy regarding possible RRS in the baby

What does it mean for my child if they find two mutations? What does it mean for our family?

Finding two changes in the ROR2 gene confirms a diagnosis of RRS. When two changes in ROR2 are found in a person with RRS, then other family members may have testing to see if they are carriers.

What does it mean if they find one mutation?

Finding only one change in a patient with possible RRS does not rule out or confirm the diagnosis. It is possible that have a second change in the ROR2 gene that we cannot find with our test.

What does it mean if they don’t find a mutation?

If someone does not have any changes in ROR2, then his/her RS is most likely not caused by problems in ROR2. This person may have DRS or they may have something else. Other possible diagnoses should be considered.

What does it mean for my child if they find a variant of unknown significance?

A small number of patients will have a change in the gene, but we are not sure whether that change causes RRS or not. In this case, we may recommend testing parents to give us more information.

How much does the testing cost and will my child’s health insurance cover it?

When/how will I get the results?

Testing takes approximately 4-6 weeks. Results will be faxed and mailed to your doctor.

What happens to the information from this test?

Your doctor will send a form about you/your child’s symptoms with the blood sample. This will help the lab understand the test result. The symptoms and test results will be put into a public database after removing the name and all identifying information. Information from people with RRS will increase what we know about this disorders and the genetic test.

Additional Resources:
    Robinow Syndrome Foundation

       Phone: 417-489-2636
       Kim Kremeier email:


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