Roberts syndrome

Unfortunately, it is not common to know your carrier status before having a child. This is especially true for rare conditions like Roberts syndrome. Most people are carriers of four to five different genetic conditions. Normally this is not an issue because there is a low chance that your partner is also a carrier of the same condition.
There is a certain test you can do before or during pregnancy called carrier screening. This test looks to see if you are a carrier of more common conditions. However, it still would not have tested for a rare condition like Roberts syndrome. So, unfortunately, there was no way to know that you are a carrier before having a child.
Once a genetic change is found, it is possible to test future pregnancies to see if they are affected. It is also possible for family members to have testing to find out their carrier status.

If a genetic change is found in a person with Roberts syndrome, other family members can also get testing. If a child is affected it is likely that the mother and father are both carriers of the genetic change. Other family members, such as siblings, aunts, uncles, grandmothers, grandfathers, and cousins can also be tested to see if they are carriers. Carriers will not have features or symptoms of Roberts syndrome, but there is a risk to their children or future children/grandchildren.
A genetic counselor or other genetics professional can discuss the specific risks for you and your family members. Find a genetic counselor near you by using the "Find a Genetic Counselor" tool at the National Society of Genetic Counselors’ website.

Because Roberts syndrome is very rare, it may be hard to find other people who are affected. However, it is still possible to try to contact other people with Roberts syndrome. Social media or websites may be useful. Your doctor may be able to help you contact people who are doing or have done research on patients with Roberts syndrome, and help find other patients that they have worked with. For more information about researchers, see ClinicalTrials.gov.
It is also possible to reach out to or meet people with similar symptoms, but different genetic disorders. For example, cleft lip and cleft palate (openings in the upper lip or roof of the mouth) are common in a few genetic disorders. It may be helpful to speak to other people with similar symptoms to learn more about treatment.

– Plastic surgery team – to see if surgery is needed
– X-rays of skull, arms, legs, and hands to document differences
– Eye doctor (ophthalmologist) – eye exam
– Heart doctor (cardiologist) – a heart ultrasound can look for differences in the heart structure and function
– Kidney doctor (nephrologist) – a kidney ultrasound can see if the kidneys are in the right place and are the right shape/size
– Developmental assessment by a team that specializes in development delay or learning disabilities

Roberts syndrome is usually abbreviated as RBS.

If a baby has a more severe form of Roberts syndrome, there is a high risk of stillbirth or death in the early stages of life.
If a person has milder symptoms, it is possible to live into adulthood. Some people can have average intelligence and live relatively normal lives despite many medical and cosmetic complications. Other people can live into adulthood, but may have intellectual disabilities and require more care.

Roberts syndrome is a rare genetic disorder. It is caused by a spelling change in a gene called ESCO2. This spelling change results in abnormal growth and development of different parts of the body, most often the arms, legs, and face. Children with Roberts syndrome are often born with short arms and legs and are sometimes missing toes and fingers. They may also have facial features that look different than other people in their family. Children with Roberts syndrome are often born with an opening in the roof of the mouth (cleft palate), an opening in the upper lip (cleft lip), a small chin (micrognathia), eyes that are far apart (hypertelorism), down-slanting eyes, small head size (microcephaly), and a small, pointed nose. They can also have problems with their heart, kidneys, and genitals. Some people with Roberts syndrome have more features, while another people with Roberts syndrome have fewer features. There is a range of severity for this condition.

A suspected or confirmed diagnosis of Roberts syndrome is based on growth retardation, differences in the limbs, and certain facial features. There are other symptoms a doctor should look for:

The ESCO2 gene gives the body instructions how to grow and develop. Specifically, this gene helps the body make new cells at the right time. It helps the whole body grow at the right time and in the right way. If there is a mistake in the instructions, the body is not able to read them properly. New cells are not made when they are supposed to be made, and cells that could otherwise grow may be destroyed. So, changes in the ESCO2 gene cause certain parts of the body, especially the arms and legs, to grow differently than expected.

A change or spelling mistake in the ESCO2 gene causes Roberts syndrome.

A variant is another word for a change. When a person inherits a “variant” in the gene for Roberts syndrome, it means they have a change in the ESCO2 gene. However, it is not known if this specific change actually causes Roberts syndrome. This is often called a variant of uncertain significance (VUS). Sometimes the interpretation of a variant will change as more people are tested and the laboratory gathers more data.
If you inherit one ESCO2 gene with a variant, you are a carrier. You would show no symptoms of Roberts syndrome. Because of the way Roberts syndrome is passed down through a family, both parents have to have a non-working copy to have a risk of having a child with Roberts syndrome. If you have one working copy, just like your mother or father, you will not have symptoms. You will be a carrier, just like them. This means that when you have children there is a risk to pass this variant down to your child. There is only a risk for them to have Roberts syndrome if your partner is also a carrier and your variants are found to cause the condition.

Slow growth: babies are often a lot smaller than expected while they are inside the mother, and they are also born extremely small compared to other babies
Differences in the limbs: short arms and legs; usually the arms are more severe than the legs
Differences in the hands: unusually-shaped fingers, fingers in the wrong place, curved fingers, missing fingers
Differences in facial features: hole in the lip or roof of the mouth (cleft lip/palate), small head (microcephaly), small chin (micrognathia), down-slanting eyes, wide-spaced eyes (hypertelorism), differences in the ears, small and beaked nose. Children who are more severely affected can have a sac-like part of their brain coming out the front of their skull.
Intellectual Disability: can range from mild to severe
Differences in the heart
Differences of the kidneys
Differences of the genitals in males and females
Very thin hair

Variable expression is seen in Roberts syndrome. This means that different people may have different features. Also, features may be more or less serious in different people. The condition has been seen to appear differently even between siblings. It is unclear why some people are more severely affected than others.

Roberts syndrome does not have specific characteristics that are seen only in this genetic condition. However, if the following three features are seen, Roberts syndrome should be suspected:
– growth retardation during pregnancy and at birth
– differences of the limbs
– differences of facial features

There is no standard newborn testing for Roberts syndrome. A child’s doctor would have to suspect Roberts syndrome based on features and symptoms, then order specific testing.

There are two types of tests that can be done if Roberts syndrome is suspected. The first test is an older test. It is not done as much anymore because it can cause some confusion, but it is sometimes done as a first test. It is a blood test that looks at a picture of all of a person’s genetic information. This test is not able to see all of the details, but looks at the "larger picture". It looks to see if the body is working the right way to make new cells. The second type of genetic test looks in more detail at the genetic information. It acts like a "spell check" for the genetic instructions. It reads through the instructions of the ESCO2 gene to look for changes (like spelling mistakes) that could cause the body to not understand the instructions.

Unfortunately, as of May 2016, there is no clinical research specifically for Roberts syndrome. Because it is such a rare condition, there are not enough affected people to conduct research.

As of May 2016, a study of children with cleft lip is looking at the use of Botox during cleft lip repair to reduce scarring. Jaecel O. Shah at the University of Texas Health Sciences Center is conducting this research. You can read more about it at this link. Discuss this study with your doctor to get more information, see if you are eligible, or to enroll.

If you or a family member had a child with Roberts syndrome, testing can be done in a future pregnancy. The test is done through a procedure called an amniocentesis. During an amniocentesis, a small needle is inserted into the amniotic sac around the baby. A small sample of amniotic fluid is used to look at the baby’s genetic information. This procedure does not harm or hurt the baby. However, there is a small (1 in 500) risk for miscarriage or complication with this procedure.
You can also choose to monitor the baby with ultrasounds. However, features may be different in each child, so there may be different findings than in a previous pregnancy. There may also be no signs on ultrasound.

There is no treatment to cure Roberts syndrome. Instead, it is important to address the features and symptoms that are present in an individual. Different symptoms may require different treatment or screening. For example, it may be important to consider a heart ultrasound (echocardiogram) to screen for heart abnormalities, or to schedule surgery for repair of a cleft lip.

Changes in the ESCO2 gene are known to cause Roberts syndrome.

Roberts syndrome has been seen in all races and all ethnic backgrounds. It is more common in marriages where the husband and wife are related by blood, such as being cousins. This is because people who are related to each other have similar genetic information. This includes the ESCO2 gene that causes Roberts syndrome. So, if one person in a family is a carrier, a relative is more likely than a non-relative to also be a carrier.

As of May 2016, the chance of being a carrier of Roberts syndrome (also called the carrier frequency) is unknown. Roberts syndrome is a rare disease. Because it is so rare, there has not been enough research done to calculate how many people in the world are carriers. However, the chance that you and your partner are both carriers is low.

You should follow-up with your primary care doctor (general doctor or pediatrician) for your general health. It is also important to see other specialist doctors (for example, a heart doctor/cardiologist, or a kidney doctor/nephrologist) if you need to.
Your primary care doctor can make referrals to specialists, if needed. You should have at least one appointment with these specialist doctors so they can decide if you need to see them on a regular basis. If other health problems come up, either related to Roberts syndrome or not, they should be able to tell you which other doctors you should see.

If you have a different partner in your next pregnancy it is unlikely that he or she would also be a carrier. However, there is a small chance because the exact number of carriers in the population is unknown.
If you are a carrier, there is a chance your child will also be a carrier. This means your child will not have features of Roberts syndrome. However, future generations will be at risk for having a child born with Roberts syndrome. This depends on the carrier status of your children’s future partners.
Testing may be available for a new partner, or for family members (including your other children). Check out the Genetic Testing Registry for a list of the labs that offer testing. Your genetic counselor can help with this information. To find a genetic counselor, use the "Find a Genetic Counselor" tool on the National Society of Genetic Counselors’ website.

Roberts syndrome is inherited in an autosomal recessive pattern. This means that both parents of a child with Roberts syndrome are carriers. Carriers have one working copy of the ESCO2 gene instructions and one changed copy of the ESCO2 gene instructions. Carriers are unaffected because one working set of instructions in enough for the body to grow correctly. Carriers may never know they are a carrier unless they have a child born with Roberts syndrome.
Imagine a couple who are both carriers of a non-working ESCO2 gene. Each of their children has a 25% chance of inheriting both non-working copies and having Roberts syndrome. Each child has a 50% chance of inheriting only one non-working copy and being carrier with no symptoms like their parents. Finally, there is a 25% chance each child will inherit two working copies of the ESCO2 gene, not have Roberts syndrome, and not be a carrier.

Since there are no support groups specifically for Roberts syndrome, it makes it more difficult for patients and families to stay up to date. However, your doctor can help you stay up to date on current research. You can also find out about current clinical trials and updated research through national organizations, such as the National Institutes of Health’s ClinicalTrials.gov website.

Starting a support group specific to Roberts syndrome may be difficult because there are not a lot of people affected by the condiition. However, many of the symptoms and features seen in Roberts syndrome overlap with other rare genetic conditions that do not have their own support group, either. If you would like to start your own support group for people with rare disorders it would be helpful to contact an organization that is already set-up, such as one of the ones listed below. These big organizations can help connect you with other people who have similar goals as you, to help you work as a team.
– FACES: The National Craniofacial Association
– AmeriFace: the Cleft/Craniofacial Advocates
– Children’s Craniofacial Association

As of December, 2015, there are no organizations accepting donations specifically for Roberts syndrome. However, there are many foundations and organizations that accept donations for many of the features and symptoms seen in Roberts syndrome. In addition, you can always donate to organizations that specialize in helping people with rare genetic disorders.
– Children’s Craniofacial Association
– FACES: The National Craniofacial Association
– The Children’s Heart Foundation
– Rare Genomics Institute

If a diagnosis of Roberts syndrome is suspected, a genetics doctor can order genetic testing. This can confirm a diagnosis. The test looks for changes in a person’s genetic instructions. Changes or missing pieces of instructions can cause the body to grow or develop differently than expected.

You can find a genetic counselor in your area by looking at the website of the National Society of Genetic Counselors: http://nsgc.org/p/cm/ld/fid=164

To stay tuned with current research, look at ClinicalTrials.gov, a service of the U.S. National Institutes of Health. You can search for “Roberts syndrome” or for a specific feature or symptoms (for example, "cleft palate").

Support organizations sometimes provide information on current research. However, there are currently no support groups specifically for Roberts syndrome.

There are no centers of excellence for Roberts syndrome as of May 2016. However, the following groups have published information about the patients they have seen with Roberts syndrome:

– Department of Obstetrics and Gynecology, University of Medicine and Pharmacy in Iassy, Romania: Razvan Socolov, Nicoleta Andreescu and Ana Haliciu
– Socolov, R., Andreescu, N., Haliciu, A., et al. (2015). Intrapartum diagnostic of Roberts syndrome–case presentation. Romanian journal of morphology and embryology= Revue roumaine de morphologie et embryologie, 56(2), 585. http://www.rjme.ro/RJME/resources/files/560215585588.pdf)
– Department of Cytogenetics at Hospital Robert Debre in Paris, France: Celine Dupont, Martine Bucourt and Fabien Guimiot
– Dupont, C., Bucourt, M., Guimiot, F., et al. (2014). 3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome. Molecular cytogenetics, 7(1), 59. (http://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-014-0059-6)

It is important that individuals with Roberts syndrome see a medical geneticist and/or genetic counselor. At that time, a diagnosis can be considered and referrals to specialist doctors can be made.

Roberts syndrome is very rare. It has only been seen in about 150 people in the world. So, there is still a lot of research to be done to learn more about Roberts syndrome.

Roberts syndrome affects males and females equally. Because of the way it is inherited, in an autosomal recessive pattern, it affects males and females at the same rate. Each time two carriers have a child together, there is a 25% chance the child will have Roberts syndrome. This risk does not change if the baby is a boy or girl.

Tests for Roberts syndrome are generally done using a blood sample. Other types of samples may be accepted by some labs. You can search for labs that offer testing for Roberts syndrome on the GeneTests website.

The signs and symptoms of Roberts syndrome can be more severe in certain people. Researchers suspect that other genetic and possibly environmental factors may play a role. As of May 2016, these other factors are unknown.

You did not do anything to cause Roberts syndrome in your child. There was also nothing you could have done to prevent this from happening in your child. When an egg and a sperm first meet to form a baby, genetic information from the mother and from the father combines together. With two carriers, there is a 25% chance in each pregnancy you have together that the baby will inherit two non-working copies of the ESCO2 gene instructions. Not many people know what conditions they are carriers for, before having a child. So, you would not have known about this risk. This change in your child’s genetic information was there from the very start of your baby’s life, and nothing you did during the pregnancy could have changed this.

It is important to treat symptoms of Roberts syndrome in order to improve the quality of life of affected individuals. For example:
– Surgical treatments for cleft lip and cleft palate (most often by a Craniofacial team)
– Surgical treatments for limb differences to improve movement and skills
– Use of artificial limbs (if necessary) to improve ability to move around and participate in everyday activities
– Speech therapy (if cleft lip/cleft palate are present) and physical therapy to improve function and maximize abilities
– Extra help or placement in a special education classroom if learning disabilities are present
– Heart surgery if necessary
– Kidney surgery if necessary

Roberts syndrome is also known as:

As of May 2016, there are no support groups specifically for Roberts syndrome. It is a very rare condition. However, there are support groups for some of the features and symptoms of Roberts syndrome, including:
– FACES: The National Craniofacial Association
– AmeriFace: the Cleft/Craniofacial Advocates
– Children’s Craniofacial Association

There is a milder form and a more severe form of Roberts syndrome. The severity of symptoms usually predicts how long a child will live and how many complications they will have. Individuals with the more severe form are usually stillborn or die shortly after birth. More mildly affected individuals can live into adult years. As of May 2016, it is unknown why some people have more symptoms than others.

Baller Gerold syndrome: unusually shaped skull, eyes that appear to “stick-out” of the skull, differences of the arm bones, missing fingers, and slow growth.
Thrombocytopenia-absent radius (TAR) syndrome: missing or shortened arm bones, missing thumbs, differences of the upper and lower limbs, differences of the spine, and heart problems.
Cornelia De Lange syndrome: differences of facial features, slow growth, differences of the upper limbs, and missing fingers. In both Cornelia De Lange syndrome and Roberts syndrome, the body does not make new cells correctly.
Thalidomide embryopathy: differences of the upper and lower limb bones, differences of the ears, differences of the eyes, heart problems, kidney problems, and genital differences. This condition is not genetic, but is caused by taking a medication called thalidomide during pregnancy.