This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Clinical features

Authoring team

Features include:

  • multiple dysmorphic features:
    • microcephalic
    • hypotelorism
    • broad flat nose
    • sloping forehead
    • cleft lip and / or palate, bilateral
    • malformed, low set ears
    • redundant skin about nape of neck
    • polydactyly on post-axial side
    • single palmar crease in 60%
    • small eyes and multiple colobomata
  • there may be scalp skin defects - aplasia cutis
  • holoprosencephaly
  • exomphalos
  • congenital heart disease
  • during the limited survival there is severe developmental delay

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.