Information on RTS2
Basic details
Name: Rothmund-Thomson syndrome | Acronym: RTS2
Alt. names:
Gene: RECQL4 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in:
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose, and congenital radial ray defects) and/or subtle (visible only by radiographic analysis). Patients may also present with variable immunodeficiency affecting both B and T cell compartments.
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Delayed eruption of teeth |
42 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Intellectual disability |
13 (31.7%) | 0 (0.0%) | 28 (68.3%) |
| 3 | Microphthalmia |
13 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Osteosarcoma |
13 (31.7%) | 0 (0.0%) | 28 (68.3%) |
| 5 | short stature |
13 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Frontal bossing |
12 (92.3%) | 0 (0.0%) | 1 (7.7%) |
| 7 | Small hand |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Agenesis of permanent teeth |
3 (7.0%) | 0 (0.0%) | 40 (93.0%) |
| 9 | Depressed nasal bridge |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Epicanthus |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Hypertelorism |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Micrognathia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Narrow palpebral fissure |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Poikiloderma |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Sparse scalp hair |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Cataract |
2 (4.9%) | 0 (0.0%) | 39 (95.1%) |
| 17 | Hypoplasia of teeth |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Prominent antihelix |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Sparse eyebrow |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 20 | Sparse eyelashes |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 21 | Absent eyebrow |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | Absent eyelashes |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | High palate |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Overfolded helix |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 25 | Underfolded helix |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.