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Rothmund-Thomson syndrome and the risk of bone cancer | CION Cancer Clinics
Rothmund-Thomson syndrome is a rare inherited condition that usually starts with a rash on a baby's cheeks. When it is caused by two faulty RECQL4 genes, children have a clearly raised risk of osteosarcoma, a bone cancer, mostly in childhood and the teenage years. This page explains the signs, the two forms of the syndrome, the warning signs to watch and how care is organised. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
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Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
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On this page
- What is Rothmund-Thomson syndrome, and why does it raise bone cancer risk?
- What are the signs of Rothmund-Thomson syndrome?
- How are children with the RECQL4 form looked after?
- The terms used about this syndrome, in plain language
- How do the two forms of the syndrome differ?
- What this page cannot tell you
- Four things families tell us, and what is actually true
- Common questions about Rothmund-Thomson syndrome
The short answer
What is Rothmund-Thomson syndrome, and why does it raise bone cancer risk?
Rothmund-Thomson syndrome is a rare inherited condition that usually shows as a distinctive rash in the first year of life. When it is caused by two faulty copies of the RECQL4 gene, children have a clearly raised risk of osteosarcoma, a cancer that starts in bone. The risk is highest in childhood and the teenage years.
Why the gene matters
RECQL4 makes a helicase, a protein that unwinds DNA so it can be copied and repaired. When both copies are faulty, errors build up in growing cells. Bones grow fastest in childhood and adolescence, which is one reason bone cancer is the main concern.
Two forms of the same syndrome
Doctors now separate the condition by gene. The form caused by RECQL4 carries the bone cancer risk. A second form, linked to a gene called ANAPC1, is known for cataracts in early childhood and has not been linked to the same bone cancer risk. Knowing which gene is involved changes how closely a child is watched.
Carrying one faulty RECQL4 copy is not the same as having the syndrome.What families notice
What are the signs of Rothmund-Thomson syndrome?
Most of the signs appear in infancy and early childhood. It is the pattern together, not one sign, that points to the diagnosis.
The rash
Redness and swelling on the cheeks usually begin in the first months of life. Over time it spreads to the arms, legs and buttocks, and the skin becomes a lasting mix of lighter and darker patches with fine visible blood vessels.
Hair, teeth and nails
Scalp hair, eyebrows and eyelashes are often sparse. Teeth can be small, late to appear or unusually shaped, and nails may be thin or ridged.
Growth and bones
Children are often short. Some are born with differences in the bones of the forearm or a thumb that is missing or underdeveloped.
Also seen
- Feeding problems and loose stools in infancy
- Thin bones later in life
Eyes
Cataracts in early childhood are a feature of the ANAPC1 form more than the RECQL4 form. Any clouding of a child's eye needs a prompt check by an eye specialist.
Not sure whether this applies to you?
Ask an oncologistHow care is organised
How are children with the RECQL4 form looked after?
Confirming the gene
A gene test shows whether RECQL4 or ANAPC1 is involved. Both parents are then usually offered carrier testing for the family's faults.
Knowing the warning signs
Families learn what osteosarcoma can look like: bone pain that does not settle, especially at night, a swelling near a joint, or a new limp. These are checked promptly, not blamed on growing pains.
A baseline set of X-rays
Some teams take a baseline set of bone X-rays in early childhood, because the bones can look unusual even without cancer. Later changes can then be compared.
Protecting the skin
Sun protection is part of daily life, and skin is checked regularly in adulthood because skin cancers become more likely.
Planning treatment carefully
If osteosarcoma develops, it is treated with surgery and chemotherapy. Children with the syndrome can have stronger side effects, so the team may adjust doses.
Words you will hear
The terms used about this syndrome, in plain language
- Poikiloderma
- The medical name for the rash: a mix of lighter and darker skin with fine visible blood vessels.
- RECQL4
- The gene behind the form of the syndrome that raises bone cancer risk.
- ANAPC1
- A second gene that causes a form of the syndrome with early cataracts but not the same bone cancer risk.
- Osteosarcoma
- A cancer that starts in bone, most often near the knee or shoulder in young people.
- Recessive
- A condition that appears only when both copies of a gene are faulty, one from each parent.
- Carrier
- Someone with one faulty copy and one working copy. Carriers are healthy and do not have the syndrome.
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Side by side
How do the two forms of the syndrome differ?
RECQL4 form
ANAPC1 form
Rash starting in infancy
Rash starting in infancy
Clearly raised osteosarcoma risk
No clear bone cancer risk shown
Bone differences such as a missing thumb more common
Cataracts in early childhood more common
Families taught bone warning signs
Regular eye checks are the focus
Being straight with you
What this page cannot tell you
It cannot diagnose your child. Rashes on a baby's cheeks are very common and are almost always something ordinary. The diagnosis needs a paediatrician, a dermatologist or a clinical geneticist, and a gene test. What your specific variant means is a question for the counsellor who ordered the test.
It cannot give your child a risk figure
The syndrome is rare, and the studies behind it followed small groups of families, mostly outside India. Studies so far are small, and the figures vary between them. A specialist can explain what is known for your child's gene and variant.
Who this does not apply to
Most children with bone pain do not have this syndrome, and most osteosarcoma occurs in children with no inherited condition at all. If you are a healthy adult carrier of one RECQL4 fault, this page describes a relative's condition, not your own. Tumour testing to guide treatment is a different test, covered under targeted therapy.
Commonly believed
Four things families tell us, and what is actually true
"The rash is an allergy and will go away."
In this syndrome the rash settles into a lasting pattern. Creams can ease redness but do not remove it. Sun protection is what matters most.
"Every child with the syndrome will get bone cancer."
The risk is clearly raised in the RECQL4 form, but many children never develop osteosarcoma. Knowing the warning signs helps catch it early if it does appear.
"Leg pain in a growing child is just growing pains."
For most children, yes. For a child with the RECQL4 form, bone pain that persists or wakes them at night should be checked promptly, not waited out.
"We must have done something during the pregnancy."
The condition comes from a faulty gene inherited from each parent. Nothing done during pregnancy causes it, and nothing could have prevented it.
Questions we are asked
Common questions about Rothmund-Thomson syndrome
When does osteosarcoma usually appear in this syndrome?
Most often in childhood or the teenage years, and sometimes younger than osteosarcoma in other children. The risk applies mainly to the RECQL4 form. Families are taught the warning signs so that bone pain or swelling is checked quickly.
Are regular scans done to look for bone cancer?
There is no agreed routine scan for osteosarcoma in this syndrome. Some teams take baseline X-rays in early childhood for later comparison. The main protection is prompt checking of any bone pain, swelling or limp. Your specialist team will set the plan.
Are there other cancer risks apart from bone?
Skin cancers become more likely in adult life, which is why sun protection and regular skin checks matter. Some reports also describe blood cancers, but these are uncommon. A specialist can explain what is known for your family's gene.
Is osteosarcoma treated differently in children with the syndrome?
The same combination of surgery and chemotherapy is used. Children with the syndrome can react more strongly to chemotherapy, with more mouth soreness and a low blood count, so the oncology team may adjust doses and watch closely.
We are cousins. Is that why our child has it?
It may have made it more likely. Related parents are more likely to carry the same rare fault. It is not anyone's fault, and most children of related parents are healthy. A counsellor can explain the chances for future pregnancies.
Will our next child have the syndrome too?
If both parents are carriers, each pregnancy has a one-in-four chance of an affected child. Once the family's faults are known, testing in a future pregnancy or of embryos through IVF becomes possible. A counsellor can explain these choices in Telugu.
Is the syndrome treatable?
The gene fault cannot be corrected or reversed. Care focuses on skin protection, growth, teeth, eyes and finding any cancer early. Many people with the syndrome live into adult life with regular follow-up from a specialist team.
Who should look after a child with this syndrome?
A team, usually led by a paediatrician or clinical geneticist, with dermatology, dental, eye and oncology input. Families from districts often travel to Hyderabad for specialist reviews and keep routine care near home.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- GeneReviews (NCBI) — Rothmund-Thomson Syndrome
- MedlinePlus Genetics — Rothmund-Thomson syndrome
- MedlinePlus Genetics — RECQL4 gene
- National Cancer Institute — Osteosarcoma and Undifferentiated Pleomorphic Sarcoma of Bone Treatment (PDQ) - Patient Version
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
Keep reading
Related pages
BLM, WRN and RECQL4: which cancers and what riskHow this syndrome compares with Bloom and WernerBloom syndrome and cancer riskThe related BLM conditionTesting the family for BLM, WRN and RECQL4Carrier testing for parents and siblingsConsanguinity and cancer riskWhy marriage between relatives matters for recessive genes
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