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Condition report · Cancer

Rothmund-Thomson Syndrome

A rare recessive condition, most often caused by variants in RECQL4, with a characteristic facial rash in infancy, skeletal differences and a raised risk of bone cancer (osteosarcoma) and skin cancer.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Rothmund-Thomson syndrome

Autosomal recessive

A genodermatosis with poikiloderma, sparse hair, small stature, skeletal abnormalities and, in type 2 (RECQL4), an increased risk of osteosarcoma and skin cancer.

What a diagnosis changes

Awareness of bone pain or swelling as possible signs of osteosarcoma, skin checks and sun protection; carriers have no expected health effects.

Genes analysed

Also known as

poikiloderma congenitale; poikiloderma of Rothmund-Thomson; RTS

Includes 4 related subtypes ↓
  • Rothmund-Thomson syndrome type 1
  • Rothmund-Thomson syndrome type 2
  • Rothmund-Thomson syndrome type 3
  • Rothmund-Thomson syndrome type 4
MONDO:0010002Orphanet 2909MedGen 10819

Limitations

  • Parts of RECQL4 are GC-rich, so some regions may have low sequencing coverage.

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