Short Stature Homeobox Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature.

**Synonyms:** - SHOX Deficiency - SHOX Deficiency