Rothmund-Thomson syndrome type 2
Findings
No curated finding names Rothmund-Thomson syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rothmund-Thomson syndrome type 2 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, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
Definition from the Mondo Disease Ontology (MONDO:0016369), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
109 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.
- Delayed eruption of teethHPOHP:0000684
- 42 of 42 reported patients
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 3 of 3 reported patients
- EpicanthusHPOHP:0000286
- 3 of 3 reported patients
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- 3 of 3 reported patients
- Hypoplasia of teethHPOHP:0000685
- 2 of 2 reported patients
Show the remaining 97
- Small handHPOHP:0200055
- 12 of 12 reported patients
- Sparse scalp hairHPOHP:0002209
- 3 of 3 reported patients
- Frontal bossingHPOHP:0002007
- 12 of 13 reported patients
- ErythemaHPOHP:0010783
- Very frequent (80% to 99% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% 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 · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Rothmund-Thomson syndrome type 2
- Also called
- poikiloderma of Rothmund-Thomson type 2Rothmund-Thomson syndrome, type 2RTS2