label: spondyloepimetaphyseal dysplasia, Maroteaux type
label_lc: spondyloepimetaphyseal dysplasia, maroteaux type
description: "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized 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."