Rothmund-Thomson Syndrome (RTS)

What is Rothmund-Thomson syndrome (RTS)?

Rothmund-Thomson syndrome is a condition some babies are born with. It affects several parts of the body, causing changes to skin, hair, teeth, bones, eyes and fertility. People with RTS may also have differences in the size and shape of their arms, hands and legs.

Who does Rothmund-Thomson syndrome affect?

Rothmund-Thomson syndrome is an inherited genetic disorder. If each parent has a change (mutation) in a certain gene then their baby will have this syndrome.

How common is Rothmund-Thomson syndrome?

RTS is rare. Experts know of about 300 cases of Rothmund-Thomson syndrome.

Does Rothmund-Thomson syndrome have other names?

RTS is also known as poikiloderma congenitale or poikiloderma of Rothmund-Thomson.

How will Rothmund-Thomson syndrome affect my baby?

RTS causes changes in how a child grows and develops. The condition also causes skin rash (especially on the cheeks), hair loss and changes to the eyes. Teeth may grow in later than expected. Children with Rothmund-Thomson syndrome may have a small nose and protruding jaw.

How does Rothmund-Thomson syndrome affect organ systems?

There is great variation in how this genetic disorder affects each person.

Skin

Infants with Rothmund-Thomson syndrome may develop a rash on their face. This rash may spread to their arms, legs or buttocks starting around 3 to 6 months of age. There’s also an increased risk of skin cancers such as basal cell carcinoma and squamous cell carcinoma.

Hair

Children with this genetic condition may have sparse scalp hair and absent or sparse eyebrows and eyelashes.

Teeth

With Rothmund-Thomson syndrome, children may have missing or misshapen teeth. Or, their teeth may grow in later than expected. There’s also a higher risk for dental cavities.

Eyes

Children with this genetic condition have an increased risk of cataracts beginning around 3 to 7 years of age.

Bones

Bones might be smaller than normal, fused together or absent. Thin bones can fracture more easily.

Gastrointestinal

Infants with RTS may experience feeding difficulties. Vomiting and diarrhea are also common.

Hematologic

Children with this condition often have anemia and low white blood cell counts.

Growth

Infants may have low birth weight and length. Many people with Rothmund-Thomson syndrome remain small throughout life.

Fertility

Women and people assigned female at birth (AFAB) may have abnormal menstruation

Are there complications of Rothmund-Thomson syndrome?

Children with RTS are at higher risk of developing certain types of cancer, including:

• Osteosarcoma.
• Lymphatic leukemia.
• Lymphoma.
• Skin cancer (basal cell carcinoma and squamous cell carcinoma).

What causes Rothmund-Thomson syndrome?

A mutation in the ANAPC1 or RECQL4 genes cause Rothmund-Thomson syndrome. Some people with RTS get this mutation from both of their parents. If both you and your partner carry one of these mutations, your baby has a 1 in 4 chance of developing RTS.

Not everyone with RTS has this specific genetic mutation. Researchers don’t know why some people get RTS even though they don’t have a mutation in the ANAPC1 or RECQL4 genes.

What are the symptoms of Rothmund-Thomson syndrome?

Rothmund-Thomson syndrome symptoms usually appear in the first year of life. But symptoms are different in each person. Babies with RTS may have:

• Cataracts.
• Changes to facial features.
• Feeding problems, including vomiting or diarrhea after drinking milk or formula.
• Malformations in the bones of the arms, hands or legs.
• Small, misshapen or missing teeth.
• Hair loss or sparse hair growth (including eyebrows and eyelashes).
• Keratotic lesions (calluses).
• Rash (poikiloderma) and blisters.
• Skin pigmentation differences.

How do healthcare providers diagnose Rothmund-Thomson syndrome?

You might notice symptoms of RTS in your baby, or your healthcare provider might see symptoms during a well-baby visit. If your provider suspects RTS, they will order tests to confirm the diagnosis.

What tests do healthcare providers use to diagnose RTS?

Your provider might recommend:

• Skin biopsy: Your provider may order a skin biopsy if your child has poikiloderma. Experts (pathologists) examine a tissue sample under a microscope to check for skin cell changes.
• Genetic testing: This blood test can check for a mutation in the ANAPC1 or RECQL4 genes, which can confirm RTS. But not all babies with RTS have this mutation.

How do healthcare providers treat Rothmund-Thomson syndrome?

Healthcare providers can’t treat RTS, but they can treat the symptoms it causes. Treatment for RTS depends on your child’s symptoms. Your healthcare provider will talk with you about treatments that can keep your child healthy.

Depending on your child’s specific symptoms and age, providers may recommend:

• Cataract surgery to improve vision.
• Orthopedic surgeries to treat any abnormal bones.
• Strict sun protection and routine skin exams.
• Routine dental exams and restorative dentistry treatments as needed.
• Cancer surveillance.

Is there a gene treatment for Rothmund-Thomson syndrome?

Currently, there are no approved gene treatments for Rothmund-Thomson syndrome. But researchers continue to investigate genetic mutations associated with RTS.

How can I prevent my baby from getting RTS?

There’s no way to prevent Rothmund-Thomson syndrome. It’s a genetic disorder that occurs in some people because of family history. It can also occur for reasons that aren’t explainable.

How do I know if my baby is at risk for developing RTS?

If someone in your (or your partner’s) family has Rothmund-Thomson syndrome, genetic counseling can help you learn more about your chance of having a child with RTS. You and your partner can have blood tests to see if you carry the gene mutations.

If you both have one of the mutations, that doesn’t mean your baby will necessarily have RTS. Your baby could become a carrier of RTS (they can pass it to their children someday), but not develop symptoms.

What can I expect if my child has RTS?

Healthcare providers will monitor your child carefully, which is known as surveillance. Because children with RTS are more likely to develop certain cancers, your healthcare provider will check for symptoms of these cancers.

Your child may need specialized care to manage some RTS symptoms. In addition to their pediatrician, they may see an ophthalmologist, dermatologist, dentist, orthopedist, geneticist and hematologist/oncologist.

What is my child’s life expectancy with Rothmund-Thomson syndrome?

The prognosis for many children with Rothmund-Thomson syndrome can be good and they usually have typical intelligence. People with RTS who don’t develop cancer have typical lifespans.

How should I take care of my child with Rothmund-Thomson syndrome?

Talk with your healthcare provider about your child’s symptoms. Your provider may recommend specialist care.

Let your provider know right away if you see any new lesions on your child’s skin, especially changes in color or texture. Tell your provider if you notice swelling or bumps in your child’s arms or legs or if they complain of pain.

A note from Cleveland Clinic

Rothmund-Thomson syndrome is a genetic condition some babies are born with. RTS causes skin rash and changes to the hair, bones and teeth. The condition also increases cancer risk. RTS isn’t curable, but healthcare providers can treat the symptoms. Talk to your provider about ways to help your child live a healthy life.