This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Short stature homeobox-containing gene (SHOX) deficiency

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

  • the short stature homeobox-containing gene (SHOX) is located on the distal ends of X and Y chromosomes and plays a role in long bone growth. Normal growth requires two functional copies of the gene

    • growth impairment can occur if one copy of the SHOX gene has been inactivated by mutation or deleted (haploinsufficiency)

    • SHOX deficiency can cause short stature in people with conditions such as Turner syndrome, Leri-Weil syndrome and dyschondrosteosis

    • based on a small study (26 people with SHOX haploinsufficiency compared with 45 of their unaffected relatives), children with SHOX haploinsufficiency were 3.8 cm shorter (2.1 standard deviations shorter) than their unaffected relatives and this difference persisted throughout their childhood

Reference:

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.