Dermatology · Dermatology / Neurocutaneous syndromes
Sturge–Weber syndrome
also: Encephalotrigeminal angiomatosis
Facial port-wine birthmark with leptomeningeal angioma and glaucoma.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Neurocutaneous syndromes
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, from birth
- Gene(s) involved
- GNAQ
- Alternative names & eponyms
- Encephalotrigeminal angiomatosis
Etiology & mechanism
Somatic activating GNAQ mutation.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Sturge–Weber syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Folate malabsorption syndrome
developmental delay, seizures
2 shared
Galloway–Mowat syndrome
developmental delay, seizures
2 shared
Hashimoto encephalopathy syndrome
seizures, stroke-like episodes
2 shared
Hyperinsulinism–hyperammonemia syndrome
developmental delay, seizures
2 shared
MELAS syndrome
seizures, stroke-like episodes
2 shared
NARP syndrome
developmental delay, seizures
2 shared
Peters plus syndrome
developmental delay, glaucoma
2 shared
Sotos syndrome
developmental delay, seizures
2 shared
Timothy syndrome
developmental delay, seizures
1 shared
Action myoclonus–renal failure syndrome
seizures
Shares genes with
None.
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