Characteristic anomalies are scalp defects which may range from mild, with some skin and hair defect, through to severe when there may be defects of the underlying bone. Intellectual development is generally within normal limits, even in individuals with large cranial bone defects. Rarely, bleeding occurs from dilated veins that are sometimes associated with severe scalp defects. Limb defects, ranging from small fingers and toes through to severe involvement of long bones, can also occur. However, it is common for people with the affected gene to have minimal scalp or limb abnormality.
Current management focuses on reducing the impact of any cranial or limbdefect.
Inheritance patterns Autosomal dominant. Offspring of affected individuals have a one in two chance of inheriting the affected gene. No specific test is available. A detailed 18 week ultrasound scan may detect the more severe limb and cranial defects. The Groups is a contact group founded in 1993 by the parents of an affected child.