Spondyloepiphyseal dysplasia tarda progressive arthropathy is a rare disorder of bone and cartilage that causes the skeleton to develop abnormally. Major signs and symptoms, include stiff or frozen joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. This condition may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory signs of juvenile rheumatoid arthritis. It is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.
Other forms of spondyloepiphyseal dysplasia tarda include:
X-linked spondyloepiphyseal dysplasia tarda Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Autosomal dominant spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia tarda Toledo type