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chest","onset_id":null,"reference":"PMID:14755465","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda\">X-linked spondyloepiphyseal dysplasia tarda</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the TRAPPC2 gene cause X-linked spondyloepiphyseal dysplasia tarda. The TRAPPC2 gene provides instructions for producing the protein sedlin. Sedlin is part of a large group of proteins called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). Research shows that sedlin is required for transporting large proteins out of the endoplasmic reticulum, which is an organelle that is involved in protein processing and transport. For example, sedlin is needed to move large molecules called procollagens out of the endoplasmic reticulum so they can be processed by enzymes to create smaller mature collagen proteins, which strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments.</p><p>Almost all TRAPPC2 gene mutations that cause X-linked spondyloepiphyseal dysplasia tarda result in a nonfunctional sedlin protein. As a result, large proteins, including procollagen, cannot be transported out of the endoplasmic reticulum. A lack of procollagen transport results in a decrease in mature collagen in cells and impairs the development of bones, cartilage, and other connective tissues. It is likely that this disruption in bone development leads to many of the signs and symptoms of X-linked spondyloepiphyseal dysplasia tarda, although it is unclear why the skeletal problems do not appear until later in childhood.</p><p>In about 10 percent of affected males, an identified mutation in the TRAPPC2 gene is not found. The cause of the condition in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes X-linked spondyloepiphyseal dysplasia tarda?"},{"bodyHtml":"<p>Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Their adult height ranges from 4 feet 6 inches (137 cm) to 5 feet 4 inches (163 cm). Impaired growth of the spinal bones (vertebrae) primarily causes the short stature. Spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). These spinal problems also cause back pain in people with this condition. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short torso and neck, and their arms are disproportionately long compared to their height.</p><p>Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper end of the thigh bone (femoral neck); and a broad, barrel-shaped chest. A painful joint condition called osteoarthritis that typically occurs in older adults often develops in early adulthood in people with X-linked spondyloepiphyseal dysplasia tarda and worsens over time, most often affecting the hips, knees, and shoulders.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-spondyloepiphyseal-dysplasia-tarda","sourceDocuments":[{"name":"X-linked spondyloepiphyseal dysplasia tarda","reviewed":"2018-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:26:00.956482+00:00","label":"Causes","pageSha256":"cb23cf823a76b6a7f242be3291efd5df104e8fcb69f745cd83eaa9a80fa633c3","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"X-linked spondyloepiphyseal dysplasia tarda"},"schemaVersion":1}