LOEYS-DIETZ SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: LDS1B
Number of Symptoms 50
OrphanetNr:
OMIM Id: 610168
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000347) Micrognathia 426 / 7739
2
(HPO:0000316) Hypertelorism 644 / 7739
3
(HPO:0000520) Proptosis 192 / 7739
4
(HPO:0000272) Malar flattening 277 / 7739
5
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
6
(HPO:0004440) Coronal craniosynostosis 38 / 7739
7
(HPO:0000278) Retrognathia 100 / 7739
8
(HPO:0011324) Multiple suture craniosynostosis 22 / 7739
9
(HPO:0001363) Craniosynostosis rare [HPO:skoehler] 132 / 7739
10
(HPO:0000193) Bifid uvula 66 / 7739
11
(HPO:0000577) Exotropia 43 / 7739
12
(HPO:0000592) Blue sclerae 85 / 7739
13
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
14
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
15
(HPO:0002650) Scoliosis 705 / 7739
16
(HPO:0005807) Absent distal phalanges rare [HPO:skoehler] 4 / 7739
17
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
18
(HPO:0001166) Arachnodactyly 62 / 7739
19
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
20
(HPO:0009473) Joint contracture of the hand 84 / 7739
21
(HPO:0000766) Abnormality of the sternum 31 / 7739
22
(HPO:0001762) Talipes equinovarus 309 / 7739
23
(HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
24
(HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
25
(HPO:0001156) Brachydactyly syndrome 180 / 7739
26
(HPO:0012385) Camptodactyly 113 / 7739
27
(HPO:0001388) Joint laxity 117 / 7739
28
(HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
29
(HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
30
(HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
31
(HPO:0001519) Disproportionate tall stature rare [HPO:skoehler] 39 / 7739
32
(HPO:0010648) Dermal translucency 6 / 7739
33
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
34
(HPO:0004955) Generalized arterial tortuosity 7 / 7739
35
(HPO:0004937) Pulmonary artery aneurysm 4 / 7739
36
(HPO:0002631) Ascending aortic aneurysm 9 / 7739
37
(HPO:0004954) Descending aortic aneurysm rare [HPO:skoehler] 3 / 7739
38
(HPO:0004933) Ascending aortic dissection 6 / 7739
39
(HPO:0005182) Bicuspid pulmonary valve rare [HPO:skoehler] 3 / 7739
40
(HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
41
(HPO:0001634) Mitral valve prolapse rare [HPO:skoehler] 69 / 7739
42
(HPO:0001647) Bicuspid aortic valve rare [HPO:skoehler] 34 / 7739
43
(HPO:0001643) Patent ductus arteriosus 228 / 7739
44
(HPO:0004944) Cerebral aneurysm rare [HPO:skoehler] 12 / 7739
45
(HPO:0001334) Communicating hydrocephalus 32 / 7739
46
(OMIM) Low-impact fractures (in some patients) 1 / 7739
47
(HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
48
(HPO:0002308) Arnold-Chiari malformation rare [HPO:skoehler] 42 / 7739
49
(OMIM) Velvety texture 2 / 7739
50
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Loeys et al. (2005) described 10 families with an aortic aneurysm syndrome characterized by hypertelorism, bifid uvula and/or cleft palate, and generalized arterial tortuosity with ascending aortic aneurysm and dissection. Other findings included craniosynostosis, structural brain abnormalities, mental ...
Genotype-Phenotype Correlations OMIM Attias et al. (2009) compared clinical features and outcomes of 71 patients with TGFBR2 mutations to those of 243 patients with FBN1 mutations. Aortic dilation was present in a similar proportion of patients in both the TGFBR2 and ...
Molecular genetics OMIM Loeys et al. (2005) considered TGFBR2 as a candidate gene for LDS because TGF-beta signaling has a prominent role in vascular and craniofacial development in mouse models (Azhar et al., 2003, Sanford et al., 1997) and because conditional ...