Catalog

Spondyloepiphyseal dysplasia, Maroteaux type

No MMS code

Link to WHO Definition

Spondyloepiphyseal dysplasia, Maroteaux type – http://id.who.int/icd/entity/231279233

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterised clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.