Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondyloepimetaphyseal dysplasia, Maroteaux type
Definition
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.
Also known as pseudo-Morquio syndrome type 2, SED, Maroteaux type, spondyloepimetaphyseal dysplasia, Maroteaux type, spondyloepiphyseal dysplasia Maroteaux type, spondyloepiphyseal dysplasia, Maroteaux type — per MONDO