Catalog

Spondylometaphyseal dysplasia - cone-rod dystrophy

No MMS code

Link to WHO Definition

Spondylometaphyseal dysplasia - cone-rod dystrophy – http://id.who.int/icd/entity/430156722

Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy.