SHOX deficiency
Pronunciation: shoks dih-FISH-uhn-see
Genetic condition caused by mutations in the SHOX gene, leading to short stature and sometimes skeletal abnormalities.
Full Definition
SHOX deficiency is a genetic disorder caused by mutations or deletions in the Short Stature Homeobox (SHOX) gene located on the X and Y chromosomes. The SHOX gene plays a crucial role in skeletal development and linear growth. SHOX deficiency can present with varying degrees of severity, from isolated short stature to more severe forms with characteristic skeletal abnormalities including short forearms and lower legs, increased arm span to height ratio, and Madelung deformity of the wrists. It is one of the most common genetic causes of short stature, affecting approximately 1 in 1000-2000 individuals. The condition shows X-linked inheritance patterns and can affect both males and females, though females may have milder presentations due to X-inactivation. Growth hormone therapy is often effective in improving growth velocity and final height in affected individuals.
Usage
Usage note: SHOX is an acronym but treated as a word; associated with Turner syndrome in some cases.
In Context
- "Genetic testing confirmed SHOX deficiency as the cause of the patient's disproportionate short stature." — Genetics consultation report
- "SHOX deficiency should be considered in children with short stature and suggestive skeletal features." — Diagnostic guideline