Information on LDS1
Basic details
Name: Loeys-Dietz syndrome, type 1 | Acronym: LDS1
Alt. names: Loeys-Dietz syndrome
Gene: TGFBR1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2005
Last updated on: 2023-05-17 17:25:50 by
Description
Medical management to decrease risk of vascular events is warranted, including avoidance of certain types of activities such as contact sports; Specific surveillance for surgical considerations related to issues such as aneurysms and cervical spine instability, other issues include subacute bacterial endocarditis prophylaxis with dental work; Precautions during pregnancy may be warranted due to the potential of complications including uterine rupture. Refs. PMIDs: 5173258; 3565476; 15731757; 16928994; 20301312; 19542084; 21358634; 24344637
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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 | Aortic root aneurysm |
39 (97.5%) | 0 (0.0%) | 1 (2.5%) |
| 2 | Hypertelorism |
31 (83.8%) | 0 (0.0%) | 6 (16.2%) |
| 3 | Bifid uvula |
30 (88.2%) | 0 (0.0%) | 4 (11.8%) |
| 4 | Arachnodactyly |
25 (69.4%) | 0 (0.0%) | 11 (30.6%) |
| 5 | Joint hypermobility |
25 (67.6%) | 0 (0.0%) | 12 (32.4%) |
| 6 | Abnormal sternum morphology |
24 (68.6%) | 0 (0.0%) | 11 (31.4%) |
| 7 | Malar flattening |
23 (60.5%) | 0 (0.0%) | 15 (39.5%) |
| 8 | Scoliosis |
21 (55.3%) | 0 (0.0%) | 17 (44.7%) |
| 9 | Retrognathia |
19 (48.7%) | 0 (0.0%) | 20 (51.3%) |
| 10 | Craniosynostosis |
18 (48.7%) | 0 (0.0%) | 19 (51.4%) |
| 11 | Arterial tortuosity |
16 (45.7%) | 0 (0.0%) | 19 (54.3%) |
| 12 | Talipes equinovarus |
16 (45.7%) | 0 (0.0%) | 19 (54.3%) |
| 13 | Blue sclerae |
14 (38.9%) | 0 (0.0%) | 22 (61.1%) |
| 14 | Camptodactyly |
12 (33.3%) | 0 (0.0%) | 24 (66.7%) |
| 15 | Soft skin |
12 (34.3%) | 0 (0.0%) | 23 (65.7%) |
| 16 | Dermal translucency |
11 (32.4%) | 0 (0.0%) | 23 (67.7%) |
| 17 | Micrognathia |
11 (84.6%) | 0 (0.0%) | 2 (15.4%) |
| 18 | Cervical spine instability |
7 (23.3%) | 0 (0.0%) | 23 (76.7%) |
| 19 | Disproportionate tall stature |
7 (20.0%) | 0 (0.0%) | 28 (80.0%) |
| 20 | Ascending aortic dissection |
6 (42.9%) | 0 (0.0%) | 8 (57.1%) |
| 21 | Hydrocephalus |
6 (17.7%) | 0 (0.0%) | 28 (82.4%) |
| 22 | Proptosis |
6 (40.0%) | 0 (0.0%) | 9 (60.0%) |
| 23 | Pulmonary artery aneurysm |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 24 | Arnold-Chiari malformation |
4 (11.8%) | 0 (0.0%) | 30 (88.2%) |
| 25 | Global developmental delay |
4 (11.1%) | 0 (0.0%) | 32 (88.9%) |
| 26 | High palate |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 27 | Cleft palate |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 28 | Congenital onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 29 | Exotropia |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 30 | Inguinal hernia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 31 | Mitral valve prolapse |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 32 | Pectus carinatum |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 33 | Pes planus |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 34 | Protruding ear |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 35 | Adult onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 36 | Bicuspid aortic valve |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 37 | Chronic fatigue |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 38 | Downslanted palpebral fissures |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 39 | Dural ectasia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 40 | Facial asymmetry |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 41 | Hypoplasia of the musculature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 42 | Low-set ears |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 43 | Obstructive sleep apnea |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 44 | Pectus excavatum |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 45 | Ptosis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 46 | Spondylolisthesis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 47 | Strabismus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 48 | Striae distensae |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 49 | Supernumerary ribs |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 50 | Atrial septal defect |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 51 | Bicuspid pulmonary valve |
0 (0.0%) | 0 (0.0%) | 7 (99.9%) |
| 52 | Descending thoracic aorta aneurysm |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
| 53 | Dilatation of the ductus arteriosus |
0 (0.0%) | 0 (0.0%) | 3 (99.9%) |
| 54 | Ectopia lentis |
0 (0.0%) | 0 (0.0%) | 32 (99.9%) |
| 55 | Patent ductus arteriosus |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 56 | Postaxial polydactyly |
0 (0.0%) | 0 (0.0%) | 6 (99.9%) |
| 57 | Self-healing squamous epithelioma |
0 (0.0%) | 0 (0.0%) | 7 (99.9%) |
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.