Spondyloepimetaphyseal dysplasia, Maroteaux type

MONDO:0008473

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: SED, Maroteaux type, pseudo-Morquio syndrome type 2, spondyloepimetaphyseal dysplasia, Maroteaux type, spondyloepiphyseal dysplasia Maroteaux type, spondyloepiphyseal dysplasia, Maroteaux type, brachyolmia Maroteaux type, pseudo-Morquio syndrome, type 2

0 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepimetaphyseal dysplasia, Maroteaux type itself.

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↑ Spondyloepimetaphyseal dysplasia (4) ↑ TRPV4-related bone disorder (0)

Including sub-types (0) Tagged with Spondyloepimetaphyseal dysplasia, Maroteaux type (0)

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