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People with this condition have joint pain that begins in late childhood or adolescence. The cartilage in their hips, knees, shoulders, and spine usually degenerates over time (osteoarthritis), which may impair their mobility. Due to these severe joint problems, people with SED with metatarsal shortening may require joint replacement in early adulthood.","mondoId":"MONDO:0012206","records":[{"frequencyKind":"reported","key":"00715bdd054a606f67bd25174f0f5a6086e48861a656c8881b315c46de489faf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609162","disease_name":"Czech dysplasia, Metatarsal type","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002868","is_excluded":false,"label":"Narrow iliac wing","onset_id":null,"reference":"OMIM:609162","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"200f41544c1bbfff093d46b721fc143f3c02a89840627e8d7edf595af8eac032","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609162","disease_name":"Czech dysplasia, Metatarsal type","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002515","is_excluded":false,"label":"Waddling 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>SED with metatarsal shortening is caused by a particular variant (also called a mutation) in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen, which is found in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage makes up much of the skeleton during early development. Most cartilage is later replaced by bone, except for the cartilage that continues to cover and protect the ends of bones and the cartilage that is present in the nose and external ears. Type II collagen is essential for the normal growth and development of bones and other connective tissues.</p><p>The variant that causes SED with metatarsal shortening replaces one protein building block (amino acid) known as arginine in the COL2A1 protein with another amino acid known as cysteine. This interferes with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Spondyloepiphyseal dysplasia with metatarsal shortening?"},{"bodyHtml":"<p>People with SED with metatarsal shortening often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may also have abnormalities in the bones of the spine (vertebrae), including flattened vertebrae (platyspondyly), a reduction in the space between the vertebrae, or an abnormal curvature of the spine. Some people with SED with metatarsal shortening have progressive hearing loss.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spondyloepiphyseal-dysplasia-with-metatarsal-shortening","sourceDocuments":[{"name":"Spondyloepiphyseal dysplasia with metatarsal shortening","reviewed":"2024-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:14.971907+00:00","label":"Causes","pageSha256":"801362f037e6884732ea477ba03df08407d071de120a83c6d9c1914146c98b90","sourceUrl":"https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening"}],"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":"Spondyloepiphyseal dysplasia with metatarsal shortening"},"schemaVersion":1}