Preferred Label : Short Stature Homeobox Deficiency;
NCIt synonyms : SHOX Deficiency;
NCIt 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.;
Alternative definition : NICHD: A skeletal dysplasia due to mutation(s) in the promoter or coding regions of
the SHOX gene, located in the pseudoautosomal regions of the X and Y chromosomes,
and encoding short stature homeobox protein. This condition may result in reduced
expression or function of the SHOX protein. The severity of the clinical features
is dependent upon whether one or both copies of the gene are affected.;
Semantic type(s)