This site is intended for healthcare professionals

account_circleSign in
Go to /sign-in page

You can view 5 more pages before signing in

Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

These include:

  • females affected more than males
  • mental retardation
  • facies:
    • microcephalic with prominent occiput
    • low set, dysplastic ear
    • crowded face with micrognathia and small eyes
  • limbs:
    • flexed fingers with overlapping index and fifth finger, rockerbottom feet
  • cryptorchidism
  • short sternum
  • cardiac:
    • especially ventricular septal defect
  • low birth weight
  • apnoea, which can be the actual cause of death

Related pages

Create an account to add page annotations

Create a free account

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.