Rothmund-Thomson syndrome type 1
Findings
No curated finding names Rothmund-Thomson syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.
Definition from the Mondo Disease Ontology (MONDO:0016368), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
74 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.
- Juvenile cataractHPOHP:0001118
- 10 of 10 reported patients · Juvenile onset
- Very frequent (80% to 99% of cases)
- PoikilodermaHPOHP:0001029
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Absent eyebrowHPOHP:0002223
- 7 of 10 reported patients
- Sparse hairHPOHP:0008070
- 7 of 10 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
Show the remaining 62
- Multiple skeletal anomaliesHPOHP:0005775
- Frequent (30% to 79% of cases)
- Nail dysplasiaHPOHP:0002164
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- 6 of 10 reported patients
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- TelangiectasiaHPOHP:0001009
- Frequent (30% to 79% of cases)
- Absent eyelashesHPOHP:0000561
- 5 of 10 reported patients
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.
- ANAPC1HGNC:19988
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
3 names
Resolves to: Rothmund-Thomson syndrome type 1
- Also called
- poikiloderma of Rothmund-Thomson type 1Rothmund-Thomson syndrome, type 1RTS1