Rothmund-Thomson syndrome type 4
MONDO:0970950Mondo
Findings
No curated finding names Rothmund-Thomson syndrome type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
39 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.
- CataractHPOHP:0000518
- 6 of 6 reported patients
- Cutaneous photosensitivityHPOHP:0000992
- 7 of 7 reported patients
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- 6 of 6 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 7 of 7 reported patients
- Flared metaphysisHPOHP:0003015
- 3 of 3 reported patients
- Frontal bossingHPOHP:0002007
- 7 of 7 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- MicropenisHPOHP:0000054
- 4 of 4 reported patients
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
- PoikilodermaHPOHP:0001029
- 7 of 7 reported patients
Show the remaining 27
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 7 of 7 reported patients
- Short metacarpalHPOHP:0010049
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 7 of 7 reported patients
- Sparse eyebrowHPOHP:0045075
- 7 of 7 reported patients
- Sparse scalp hairHPOHP:0002209
- 7 of 7 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.
- DNA2HGNC:2939
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Rothmund-Thomson syndrome type 4
- Also called
- Rothmund-Thomson syndrome, type 4