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.
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autosomal dominant brachyolmia
MONDO:0007232
metatropic dysplasia
MONDO:0007986
parastremmatic dwarfism
MONDO:0008196
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
MONDO:0008469
spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008476
spondylometaphyseal dysplasia, Kozlowski type
MONDO:0008477