Sturge-Weber syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SWS
Sturge-Weber-Krabbe syndrome
Encephalotrigeminal angiomatosis
Encephalofacial angiomatosis
Sturge-Weber-Krabbe angiomatosis
Number of Symptoms 39
OrphanetNr: 3205
OMIM Id: 185300
ICD-10: Q85.8
UMLs: C0038505
MeSH: D013341
MedDRA: 10042265
10057653
Snomed: 19886006

Prevalence, inheritance and age of onset:

Prevalence: 0.4 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Capillary malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
Cerebral diseases of vascular origin with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Conjunctival hemangioma or hemolymphangioma
 -Rare eye disease
 -Rare genetic disease
Genetic vascular anomaly
 -Rare genetic disease
Malformation syndrome with hamartosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Neurocutaneous syndrome with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Neurovascular malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Palpebral tumor with a vascular malformation
 -Rare eye disease
 -Rare genetic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Skin vascular disease
 -Rare skin disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
2
 (HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
3
 (HPO:0000329) Facial hemangioma 5 / 7739
4
 (HPO:0008046) Abnormality of the retinal vasculature 41 / 7739
5
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
6
 (HPO:0000557) Buphthalmos 16 / 7739
7
 (HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
8
 (HPO:0007872) Choroidal hemangioma 1 / 7739
9
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
10
 (HPO:0000524) Conjunctival telangiectasia Occasional [Orphanet] 17 / 7739
11
 (HPO:0001100) Heterochromia iridis Occasional [Orphanet] 31 / 7739
12
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
13
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
14
 (HPO:0000610) Abnormality of the choroid Occasional [Orphanet] 11 / 7739
15
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
16
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
17
 (HPO:0002167) Neurological speech impairment 308 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
20
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
21
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
22
 (HPO:0000717) Autism Very frequent [Orphanet] 108 / 7739
23
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
24
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
25
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
26
 (HPO:0010622) Neoplasm of the skeletal system Occasional [Orphanet] 30 / 7739
27
 (HPO:0012222) Arachnoid hemangiomatosis 1 / 7739
28
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
29
 (HPO:0100659) Abnormality of the cerebral vasculature Occasional [Orphanet] 25 / 7739
30
 (HPO:0002140) Ischemic stroke Frequent [Orphanet] 70 / 7739
31
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
32
 (OMIM) Arachnoid hemangiomata 1 / 7739
33
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
34
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
35
 (OMIM) Hemangiomata in at least first branch (ophthalmic) of trigeminal nerve distribution, unilateral, occasionally bilateral 1 / 7739
36
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
37
 (OMIM) 'Double contour' convolutional calcification on CT scan 1 / 7739
38
 (HPO:0003745) Sporadic 131 / 7739
39
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results ...
Clinical Description OMIM The Klippel-Trenaunay-Weber syndrome (149000) is sometimes associated with SWS (see Bonse, 1951 and Nonnenmacher, 1955).

Debicka and Adamczak (1979) described Sturge-Weber syndrome in father and son, both of whom had, in addition to trigeminal angiomatous nevi, ...
Molecular genetics OMIM Shirley et al. (2013) performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 SWS patients and identified 1 nonsynonymous somatic single-nucleotide variant in the GNAQ gene (R183Q; 600998.0001) that was present ...