spondyloepimetaphyseal dysplasia, Maroteaux type
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.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0018240
TRPV4-related bone disorder
is_a
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SED, Maroteaux type
exact
brachyolmia Maroteaux type
related
pseudo-Morquio syndrome type 2
exact
spondyloepimetaphyseal dysplasia, Maroteaux type
exact
spondyloepiphyseal dysplasia Maroteaux type
exact
spondyloepiphyseal dysplasia, Maroteaux type
exact