LOEYS-DIETZ SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
LDS4
Number of Symptoms 31
OrphanetNr:
OMIM Id: 614816
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:0000278) Retrognathia 100 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0000494) Downslanted palpebral fissures rare [HPO:skoehler] 328 / 7739
4
(HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
5
(HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
6
(HPO:0001166) Arachnodactyly 62 / 7739
7
(HPO:0002650) Scoliosis 705 / 7739
8
(HPO:0001763) Pes planus 176 / 7739
9
(HPO:0000766) Abnormality of the sternum 31 / 7739
10
(HPO:0005692) Joint hyperflexibility 20 / 7739
11
(HPO:0003302) Spondylolisthesis rare [HPO:skoehler] 14 / 7739
12
(HPO:0000023) Inguinal hernia 181 / 7739
13
(HPO:0000098) Tall stature 74 / 7739
14
(HPO:0000978) Bruising susceptibility 123 / 7739
15
(HPO:0001065) Striae distensae 26 / 7739
16
(HPO:0001647) Bicuspid aortic valve rare [HPO:skoehler] 34 / 7739
17
(HPO:0002647) Aortic dissection 14 / 7739
18
(HPO:0001634) Mitral valve prolapse 69 / 7739
19
(HPO:0005116) Arterial tortuosity 4 / 7739
20
(HPO:0002097) Emphysema rare [HPO:skoehler] 40 / 7739
21
(HPO:0100750) Atelectasis 17 / 7739
22
(HPO:0002107) Pneumothorax rare [HPO:skoehler] 7 / 7739
23
(OMIM) Protrusio acetabularis 1 / 7739
24
(OMIM) Steinberg thumb sign 1 / 7739
25
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
(OMIM) Aortic root aneurysm 1 / 7739
27
(OMIM) Wrist sign 1 / 7739
28
(HPO:0100775) Dural ectasia 5 / 7739
29
(OMIM) Broad or bifid uvula (in some patients) 1 / 7739
30
(OMIM) Fusiform dilation and tortuosity of cerebrovascular arteries 1 / 7739
31
(OMIM) Cerebrovascular aneurysm (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lindsay et al. (2012) studied 8 families segregating autosomal dominant aortic aneurysm in association with variable other features, including hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, club feet, and thin skin with easy ...
Molecular genetics OMIM Lindsay et al. (2012) performed SNP array analysis in 2 unrelated probands with aortic aneurysm and MFS- and LDS-like features as well as mild developmental delay, and identified 2 unique heterozygous de novo chromosomal microdeletions at 1q41, both ...