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

This syndrome is characterised by:

  • distinct facies
  • abnormalities of hands and feet:
    • broad thumbs and toes
    • clinodactyly
    • dislocation of the radial head
    • hip dislocation
  • proportionate short stature
  • occasionally mental retardation
  • undescended testes

The distinct facies includes:

  • prominent supraorbital ridges
  • a broad nasal root
  • flattening of the midface
  • micrognathia
  • anti-mongoloid slant of eyes

There is an association between cleft palate and conductive deafness.

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.

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.