Schmid metaphyseal chondrodysplasia

Definition

A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

Also known as MCDS, metaphyseal chondrodysplasia Schmid type, Metaphyseal Chondrodysplasia, Schmid Type, spondylometaphyseal dysplasia, Japanese type — per MONDO

Also identified as

• DOID 0080021 per MONDO
• MESH C537352 per MONDO
• OMIM 156500 per MONDO
• Orphanet 174 per MONDO
• SCTID 29248006 per MONDO
• UMLS C0265289 per MONDO