Winchester Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.

**Synonyms:** - Torg-Winchester Syndrome - WNCHRS