This condition is a skeletal dysplasia characterized by short stature, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature and short and bowed legs. Intelligence is normal. Some patients may manifest premature pubarche and hyperandrogenism. Other features that may form part of the syndrome include precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies.
Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type 1B
Spondyloepiphyseal dysplasia congenita
Achondrogenesis type 2
Metaphyseal chondrodysplasia Schmid type
Platyspondylic lethal skeletal dysplasia, Torrance type
Chondrodysplasia, Grebe type