This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages without signing in

Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Features include:

  • blueberry skin lesions in the neonate - purpuric, in 25% - pinprick lesions
  • deafness in about 80%
  • heart defect or patent ductus arteriosus in about 60%
  • mental retardation in about 55%
  • retinopathy, described as salt and pepper, in about 50%
  • cataract in about 30%
  • glaucoma
  • microencephaly
  • hepatosplenomegaly, retarded growth, thrombocytopenia
  • osteitis

Related pages

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.