Rothmund-Thomson syndrome
Findings
No curated finding names Rothmund-Thomson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
Definition from the Mondo Disease Ontology (MONDO:0010002), read 2026-09-29. CC BY 4.0.
Features
56 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Malar rashHPOHP:0025300
- Very frequent (80% to 99% of cases)
- PoikilodermaHPOHP:0001029
- Very frequent (80% to 99% of cases)
- Skin rashHPOHP:0000988
- Very frequent (80% to 99% of cases)
- Abnormal blistering of the skinHPOHP:0008066
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
- Infertility
Show the remaining 44
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Sparse eyebrowHPOHP:0045075
- Frequent (30% to 79% of cases)
- Sparse eyelashesHPOHP:0000653
- Frequent (30% to 79% of cases)
- Sparse hairHPOHP:0008070
- Frequent (30% to 79% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Occasional (5% to 29% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RECQL4HGNC:9949
- Definitive · ClinGen · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: Rothmund-Thomson syndrome
- Also called
- poikiloderma of Rothmund-ThomsonRTS