Sturge-Weber syndrome
- Synonyms
- Encephalofacial angiomatosis; Encephalotrigeminal angiomatosis; Fourth phacomatosis; Leptomeningeal angiomatosis; Meningeal capillary angiomatosis; STURGE-WEBER SYNDROME, SOMATIC, MOSAIC; SWS type I - Facial and leptomeningeal angiomas; SWS type II - Facial angioma alone, no CNS involvement; SWS type III - Isolated leptomeningeal angiomas
- Modes of inheritance
- Not genetically inherited (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Facial hemangioma
Facial hemangioma
- MedGen UID: 348361
- Concept ID: C1861443
- Finding: Finding
Abnormality of head or neck
- Facial hemangioma
- Abnormality of the eye
- Buphthalmos
Buphthalmos
- MedGen UID: 1641795
- Concept ID: C4551507
- Finding: Congenital Abnormality
Abnormality of the eye
- Choroidal hemangioma
Choroidal hemangioma
- MedGen UID: 83424
- Concept ID: C0346390
- Finding: Neoplastic Process
Abnormality of the eye
- Buphthalmos
- Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
- Abnormality of the nervous system
- Cerebral cortical atrophy
Cerebral cortical atrophy
- MedGen UID: 1646740
- Concept ID: C4551583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebral cortical atrophy
- Neoplasm
- Arachnoid hemangiomatosis
Arachnoid hemangiomatosis
- MedGen UID: 868599
- Concept ID: C4022998
- Finding: Finding
Neoplasm
- Arachnoid hemangiomatosis
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