Catalog

Acromesomelic dysplasia, Maroteaux type

No MMS code

Link to WHO Definition

Acromesomelic dysplasia, Maroteaux type – http://id.who.int/icd/entity/29990978

Acromesomelic dysplasia Maroteaux type is a rare autosomal recessive osteochondrodysplasia belonging to the group of acromesomelic dysplasias, and is clinically characterised by severe dwarfism with shortening of the middle and distal segments of the limbs, and radiologically, by short broad fingers, shortening of the middle long bones with a bowed radius, and vertebral abnormalities.