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Spondyloepimetaphyseal dysplasia, Maroteaux type
rareA 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.
- Identifiers
- MONDO:0008473 OMIM:184095Orphanet:263482
- Causal genes
- TRPV4
- Also known as
- brachyolmia Maroteaux type · pseudo-Morquio syndrome type 2 · SED, Maroteaux type · spondyloepiphyseal dysplasia Maroteaux type · spondyloepiphyseal dysplasia, Maroteaux type
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