SHOX-related short stature

SHOX-related short stature is a type of primary bone dysplasia where people have a height that is significantly below the average for their age, sex, and population group. The condition is noted when there are no obvious skeletal abnormalities or other diseases that explain the short stature. People with this condition show a normal bone age and normal limb appearance along with characteristic radiological signs. These can include features like the triangular shape of the distal radial epiphyses and pyramidal arrangement of the distal carpal row. This description helps distinguish the condition from other causes of short stature.

Common signs include a height that is 2 standard deviations below the average along with shortening of the extremities. Radiological findings such as triangularization of the distal radial epiphyses, pyramidalization of the distal carpal row, and lucency on the ulnar side of the distal radius can be seen. Other typical features such as mesomelic disproportions or Madelung deformity may not be present early in life, but could develop later or may not appear at all.

This condition is caused by changes in the SHOX gene. It is inherited in an X-linked pattern, which means the gene change can affect people in a family across different generations. The presence of a normal karyotype and normal hGH values helps to rule out other conditions.

Information about treatment is currently limited for this condition.

The prognosis for people with SHOX-related short stature can vary. Some individuals may experience additional skeletal changes later in life, while others may not develop further complications. Overall, the condition generally affects height without causing widespread health problems.

Current research is exploring the role of the SHOX gene in bone development and growth. However, detailed information on research related specifically to treatment outcomes and long-term management for this condition is limited.