NORD gratefully acknowledges George E. Tiller, MD, PhD, Department of Genetics, Southern California Permanente Medical Group, Los Angeles, CA, for assistance in the preparation of this report.
Spondyloepiphyseal dysplasia tarda (SEDT; SEDL) is a rare, hereditary skeletal disorder that only affects males. Physical characteristics include moderate short stature (dwarfism), moderate-to-severe spinal deformities, barrel-shaped chest, disproportionately short trunk, and premature osteoarthritis.
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National Organization for Rare Disorders (NORD)
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