Some individuals have learning difficulties. The condition is associated with a 'port wine' stain usually confined to half the face in the distribution of the branches of the trigeminal nerve. It may sometimes be bilateral or other parts of the body may also be affected. Occasionally no port wine stain is present. Associated eye conditions, most commonly choroidal angioma or glaucoma may be present.
Inheritance patterns Sporadic mutations with no evidence of familial involvement.
The Foundation is a National Registered Charity No. 1016688 formed in 1990. Over 150 Subscription Free to families Is payable for professionals Contact a Family is a UK charity which helps families who care for children with any disability or special need. We are a main source of information about rare disorders and are able to assist affected adults as well as children. The CaF Directory Online contains details of many medical conditions and also patient support groups. The information in it is also provided as part of the NHS Direct Online service.