LOEYS-DIETZ SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: FURLONG SYNDROME
LOEYS-DIETZ AORTIC ANEURYSM SYNDROME
LDS1A
Number of Symptoms 40
OrphanetNr:
OMIM Id: 609192
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0001363) Craniosynostosis 132 / 7739
3
(HPO:0000278) Retrognathia 100 / 7739
4
(HPO:0000520) Proptosis 192 / 7739
5
(HPO:0004440) Coronal craniosynostosis 38 / 7739
6
(HPO:0000347) Micrognathia 426 / 7739
7
(HPO:0011324) Multiple suture craniosynostosis 22 / 7739
8
(HPO:0000193) Bifid uvula 66 / 7739
9
(HPO:0000272) Malar flattening 277 / 7739
10
(HPO:0000175) Cleft palate 349 / 7739
11
(HPO:0000592) Blue sclerae 85 / 7739
12
(HPO:0000577) Exotropia 43 / 7739
13
(HPO:0001263) Global developmental delay 853 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001388) Joint laxity 117 / 7739
16
(HPO:0001762) Talipes equinovarus 309 / 7739
17
(HPO:0012385) Camptodactyly 113 / 7739
18
(HPO:0002650) Scoliosis 705 / 7739
19
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
20
(HPO:0001166) Arachnodactyly 62 / 7739
21
(HPO:0000766) Abnormality of the sternum 31 / 7739
22
(HPO:0100259) Postaxial polydactyly 85 / 7739
23
(HPO:0001519) Disproportionate tall stature 39 / 7739
24
(HPO:0010648) Dermal translucency 6 / 7739
25
(HPO:0002631) Ascending aortic aneurysm 9 / 7739
26
(HPO:0004955) Generalized arterial tortuosity 7 / 7739
27
(HPO:0001634) Mitral valve prolapse 69 / 7739
28
(HPO:0001647) Bicuspid aortic valve 34 / 7739
29
(HPO:0004954) Descending aortic aneurysm 3 / 7739
30
(HPO:0004937) Pulmonary artery aneurysm 4 / 7739
31
(HPO:0004933) Ascending aortic dissection 6 / 7739
32
(HPO:0004944) Cerebral aneurysm 12 / 7739
33
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
34
(HPO:0005182) Bicuspid pulmonary valve 3 / 7739
35
(HPO:0001631) Atria septal defect 274 / 7739
36
(HPO:0001643) Patent ductus arteriosus 228 / 7739
37
(HPO:0001334) Communicating hydrocephalus 32 / 7739
38
(HPO:0002308) Arnold-Chiari malformation 42 / 7739
39
(OMIM) Velvety texture 2 / 7739
40
(HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula ...
Clinical Description OMIM Furlong et al. (1987) described a male of normal height and intelligence with dolichocephaly, a high palate, dolichostenomelia, a mild scoliosis, L4-5 spondylolisthesis, long thorax, prominent pectus carinatum, camptodactyly, pes planus, mitral valve insufficiency, bilateral recurrent inguinal herniae, ...
Molecular genetics OMIM In 4 families with Loeys-Dietz syndrome who did not carry a mutation in TGFBR2 (190182), Loeys et al. (2005) identified a unique missense mutation in TGFBR1 (190181). Two mutations occurred in the kinase domain, one occurred at the ...