"Widened joint spaces4"
"Although many forms of MED have different genetic and phenotypic expressions, most share the common presentation of joint pain, especially in the hips and knees. Mild to moderate short stature is common, but not mandatory. Muscular hypotonia indicates MED caused by the COMP (cartilage oligomeric matrix protein) gene mutation. Club feet are often associated with the recessive form of the disease (rMED) and are present in nearly a third of individuals with rMED 1."
"COMP: autosomal dominant, ~50% of the cases"
"DTDST (SCL26A2): autosomal recessive, ~25% of the cases"
"MATN3: autosomal dominant"
"COL9A2: autosomal dominant"
"COL9A3: autosomal dominant"
"COL9A1: autosomal dominant, very rare"
"Widened joint spaces4"
"Currently (c. 2024) there are six genetic mutations related to MED 2:"