Catalog

Metaphyseal acroscyphodysplasia

No MMS code

Link to WHO Definition

Metaphyseal acroscyphodysplasia – http://id.who.int/icd/entity/1994645064

Metaphyseal acroscyphodysplasia is a bone dysplasia characterised by severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly and typical cup-shaped, large metaphyses.