Rothmund-Thomson syndrome is a genetic disorder that causes changes in growth and physical development. It may also lead to certain cancers but may not necessarily shorten a person’s life expectancy.

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Rothmund-Thomson syndrome (RTS) is a very rare genetically inherited disorder. This means it develops from changes to genes — in this case, the ANAPC1 or RECQL4 genes — that happen during reproduction.

People born with RTS may have various symptoms and health conditions that range from mild to severe.

RTS is an autosomal recessive condition that presents at birth or soon after birth. This means a person must inherit two copies of a mutated gene (one from each parent) to develop the syndrome. In some cases, people with RTS do not have changes to these genes, but researchers do not know why.

This condition affects a person’s physical appearance and may lead to skin issues, cancers, or both that require continual monitoring. RTS does not affect a person’s intelligence or ability to learn.

The first symptom of RTS is a rash that typically begins when a baby is between 3 and 6 months old.

The rash starts with redness, swelling, or blisters on the face, specifically on the cheeks. It may spread to the rest of the body and become a chronic issue called poikiloderma. That condition includes discoloration, broken blood vessels, and skin thinning.

Other signs and symptoms include:

People with RTS also have an increased risk of developing certain cancers of the skin and bones, including:

Mutations in the ANAPC1 or RECQL4 genes cause RTS.

Both parents pass along these changes to the genes during conception. The parents, on the other hand, may be asymptomatic carriers of the syndrome. This means they do not have any symptoms of the condition.

That said, not all people with RTS have these genetic mutations.

The breakdown of causes is as follows:

CausesPercentage of people with RTS who have this type
ANAPC1 mutation (type 1)10%
RECQL4 mutation (type 2)60%

It takes two mutated genes, one from each parent, to cause RTS. If both parents carry the mutation, they have a 25% risk of having a child with RTS with each pregnancy.

If a child inherits just one affected gene, they will be an asymptomatic carrier. This happens 50% of the time.

Another 25% of the time, a child will not inherit any genetic mutation.

There is no cure or standard treatment for RTS. Once a person is born with RTS, they have the syndrome for life.

Treatment is tailored to the individual and aims at addressing specific health issues, such as:

RTS does not usually shorten a person’s life expectancy. The only exception is when a person develops cancer.

Otherwise, people with RTS may lead relatively typical lives that include monitoring and treatment for any symptoms that may arise.

Your pediatrician may suspect RTS if your child has the characteristic rash and other combined symptoms.

They will confirm the diagnosis with genetic testing (a blood test) to look for changes to the ANAPC1 or RECQL4 genes.

You cannot prevent RTS. It is a genetic condition a person is born with.

With autosomal recessive disorders, it takes one affected gene from each parent to result in the syndrome. If you or your partner have a family history of RTS, you may be a carrier.

You can make an appointment with a genetic counselor to discuss your risk and next steps.

How rare is this condition?

The exact rate of the syndrome is unknown. Fewer than 500 people have been described as having RTS since its first description in 1868.

Does RTS affect fertility?

Researchers say that RTS does affect fertility. However, researchers note that a few people with RTS have gone on to have healthy pregnancies.

What percentage of people with RTS develop cancer?

The percentage of people with RTS who develop cancer is also unknown.

Osteosarcoma is the most common type. In a 2001 study with 41 people with RTS, 32% of them had osteosarcoma.

RTS is a very rare genetic condition. It affects things like a person’s skin, vision, and potential to develop certain cancers.

Make an appointment with your pediatrician if you notice a persistent rash that starts on your infant’s cheeks, or if your little one has other symptoms consistent with RTS.

While there is no cure for the syndrome, treatment can improve your child’s quality of life.