Sneddon syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Livedo reticularis and cerebrovascular accidents
Livedo racemosa and cerebrovascular accidents
Ehrmann-Sneddon syndrome
Number of Symptoms 74
OrphanetNr: 820
OMIM Id: 182410
ICD-10: I77.8
UMLs: C0282492
MeSH: D018860
MedDRA: 10053841
Snomed: 238776001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Adult
25551694 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Other acquired skin disease
 -Rare skin disease
Predominantly medium-vessel vasculitis
 -Rare circulatory system disease
 -Rare systemic or rheumatologic disease
Rare central nervous system and retinal vascular disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100724) Hypercoagulability 25551694 IBIS 15 / 7739
2
 (HPO:0030746) Intraventricular hemorrhage 26968196 IBIS 1 / 7739
3
 (HPO:0200067) Recurrent spontaneous abortion 15255506; 23052460 IBIS 6 / 7739
4
 (HPO:0008046) Abnormality of the retinal vasculature 15255506 IBIS 41 / 7739
5
 (HPO:0007985) Retinal arteriolar occlusion 25551694 IBIS 2 / 7739
6
 (HPO:0030773) Internuclear ophthalmoplegia 25551694 IBIS 2 / 7739
7
 (HPO:0001123) Visual field defect 25551694; 26968196 IBIS 30 / 7739
8
 (HPO:0100576) Amaurosis fugax Frequent [Orphanet] 15255506 IBIS 13 / 7739
9
 (HPO:0012377) Hemianopia 15255506; 18474464 IBIS 3 / 7739
10
 (HPO:0000572) Visual loss Frequent [Orphanet] 15255506 IBIS 272 / 7739
11
 (HPO:0006510) Chronic obstructive pulmonary disease 26968196 IBIS 19 / 7739
12
 (HPO:0001727) Thromboembolic stroke 26968196 IBIS 4 / 7739
13
 (HPO:0100545) Arterial stenosis Very frequent [Orphanet] 23052460 IBIS 22 / 7739
14
 (HPO:0002140) Ischemic stroke Very frequent [Orphanet] 25551694; 15255506; 26968196 IBIS 70 / 7739
15
 (HPO:0002326) Transient ischemic attack 26968196; 18474464 IBIS 13 / 7739
16
 (HPO:0000822) Hypertension Frequent [Orphanet] 25551694; 15255506; 8466214; 23052460; 26968196 IBIS 224 / 7739
17
 (HPO:0007209) Facial paralysis 18474464 IBIS 8 / 7739
18
 (HPO:0003613) Antiphospholipid antibody positivity 15255506 IBIS 4 / 7739
19
 (HPO:0003124) Hypercholesterolemia 8466214 IBIS 53 / 7739
20
 (HPO:0002072) Chorea 25551694 IBIS 53 / 7739
21
 (HPO:0003401) Paresthesia 23052460 IBIS 42 / 7739
22
 (HPO:0003474) Sensory impairment 15255506 IBIS 54 / 7739
23
 (HPO:0002922) Increased CSF protein 23052460 IBIS 27 / 7739
24
 (HPO:0001347) Hyperreflexia 23052460 IBIS 363 / 7739
25
 (HPO:0011099) Spastic hemiparesis 26968196 IBIS 2 / 7739
26
 (HPO:0001269) Hemiparesis 25551694; 15255506; 23052460 IBIS 51 / 7739
27
 (HPO:0002301) Hemiplegia 18474464 IBIS 42 / 7739
28
 (HPO:0002321) Vertigo 8466214 IBIS 58 / 7739
29
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 25551694 IBIS 212 / 7739
30
 (HPO:0002381) Aphasia 25551694 IBIS 27 / 7739
31
 (HPO:0002357) Dysphasia 15255506 IBIS 33 / 7739
32
 (HPO:0000718) Aggressive behavior 27891710 IBIS 109 / 7739
33
 (HPO:0001260) Dysarthria 23052460; 18474464 IBIS 329 / 7739
34
 (HPO:0000726) Dementia 25551694 IBIS 131 / 7739
35
 (HPO:0001268) Mental deterioration 26968196 IBIS 88 / 7739
36
 (MedDRA:10057678) Vascular dementia 15255506 IBIS 1 / 7739
37
 (HPO:0000716) Depression 25551694; 15255506 IBIS 99 / 7739
38
 (HPO:0008765) Auditory hallucinations 27891710 IBIS 8 / 7739
39
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 25551694; 15255506; 8466214 IBIS 230 / 7739
40
 (HPO:0002354) Memory impairment Very frequent [Orphanet] 15255506 IBIS 63 / 7739
41
 (HPO:0001337) Tremor Occasional [Orphanet] 25551694 IBIS 200 / 7739
42
 (HPO:0002315) Headache Very frequent [Orphanet] 25551694; 8466214; 26968196; 18474464 IBIS 175 / 7739
43
 (HPO:0002076) Migraine 15255506 IBIS 41 / 7739
44
 (HPO:0002077) Migraine with aura 15255506 IBIS 14 / 7739
45
 (HPO:0001250) Seizures Occasional [Orphanet] 25551694; 15255506 IBIS 1245 / 7739
46
 (HPO:0011097) Epileptic spasms 15255506 IBIS 45 / 7739
47
 (HPO:0007359) Focal seizures 15255506 IBIS 27 / 7739
48
 (HPO:0002069) Generalized tonic-clonic seizures 15255506 IBIS 96 / 7739
49
 (HPO:0009710) Chilblain lesions 26968196 IBIS 3 / 7739
50
 (HPO:0001633) Abnormality of the mitral valve 23052460 IBIS 69 / 7739
51
 (HPO:0001718) Mitral stenosis 15255506 IBIS 10 / 7739
52
 (HPO:0001654) Abnormality of the heart valves 25551694 IBIS 49 / 7739
53
 (HPO:0000789) Infertility 15255506 IBIS 74 / 7739
54
 (HPO:0010516) Thymus hyperplasia 15255506 IBIS 4 / 7739
55
 (HPO:0000965) Cutis marmorata Very frequent [Orphanet] 25551694; 15255506; 8466214; 23052460; 26968196; 27891710; 18474464 IBIS 46 / 7739
56
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 18474464 IBIS 24 / 7739
57
 (HPO:0012213) Decreased glomerular filtration rate 25551694 IBIS 21 / 7739
58
 (HPO:0000112) Nephropathy Occasional [Orphanet] 18474464 IBIS 92 / 7739
59
 (HPO:0100659) Abnormality of the cerebral vasculature 15255506 IBIS 25 / 7739
60
 (HPO:0001297) Stroke 25551694; 27891710 IBIS 44 / 7739
61
 (HPO:0003565) Elevated erythrocyte sedimentation rate 8466214 IBIS 31 / 7739
62
 (HPO:0000365) Hearing impairment 27891710 IBIS 539 / 7739
63
 (HPO:0030163) Abnormal vascular physiology 26968196 IBIS 1 / 7739
64
 (HPO:0410006) Abnormality of ophthalmic artery 25551694; 15255506 IBIS 1 / 7739
65
 (HPO:0002500) Abnormality of the cerebral white matter 23052460 IBIS 73 / 7739
66
 (HPO:0030148) Heart murmur 26968196 IBIS 29 / 7739
67
 (HPO:0030516) Homonymous hemianopia 26968196 IBIS 2 / 7739
68
 (HPO:0030880) Raynaud phenomenon 25551694 IBIS 2 / 7739
69
 (HPO:0030666) Retinal neovascularization 25551694 IBIS 1 / 7739
70
 (MedDRA:10008118) Cerebral infarction 15255506 IBIS 10 / 7739
71
 (MedDRA:10068447) Creatinine renal clearance abnormal 8466214 IBIS 1 / 7739
72
 (MedDRA:10028417) Myasthenia gravis 15255506 IBIS 1 / 7739
73
 (MedDRA:10040026) Sensory disturbance 25551694 IBIS 1 / 7739
74
 (MedDRA:10053972) Thrombin-antithrombin III complex abnormal 15255506 IBIS 1 / 7739

Associated genes:

ADA2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sneddon syndrome is a noninflammatory arteriopathy characterized by livedo reticularis and cerebrovascular disease. Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., ...
Clinical Description OMIM Sneddon (1965) described 6 patients (5 females, 1 male), varying in age from 20 to 48 years, who had association of livedo reticularis with cerebrovascular accident. Rebollo et al. (1983) reported 8 patients and concluded that the disorder was ...
Population genetics OMIM Sneddon syndrome has an incidence of about 4 per million per year. It is more common in women and usually presents in young adulthood (Legierse et al., 2008).