Spondyloepiphyseal dysplasia
This is a term used to describe abnormal growth of the spine (spondylo) and the ends of bones (epiphysis).
Schimkes Immuno-Osseous Dysplasia
Schimkes Immuno-Osseous Dysplasia - Patients develop short-trunk dwarfism as a result of spondyloepiphyseal dysplasia. Vertebrae are typically flattened and lumbar lordosis leads to a protuberant abdomen. The capital femoral epiphyses are small and there is hip dysplasia (with shallow acetabular fossae). Immunologic abnormalities include T cell lymphopenia and decreased T cell function (a SCID-like phenotype can occur in some cases).
Roifman Syndrome - Patients have spondyloeiphyseal dysplasia, microcephaly, IUGR, growth retardation, epiphyseal dysplasia of the hips and long bones, vertebral anomalies, developmental delay, and retinal dystrophy. Patients can have humoral immunodeficiency with normal IgG but low specific antibody responses. T cell number and function are normal. Five boys from four families with this syndrome have been reported.