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bone","onset_id":null,"reference":"ORPHA:485","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/kniest-dysplasia\">Kniest dysplasia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Kniest dysplasia is caused by variants (also called mutations) in the COL2A1 gene. This 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 is a tough, flexible tissue that makes up much of the skeleton during early development; most cartilage is later converted to bone. Type II collagen is essential for the normal growth and development of bones and other connective tissues.</p><p>Many of the variants that cause Kniest dysplasia delete one or more of the DNA building blocks (nucleotides) in the COL2A1 gene. These variants lead to the production of an abnormal version of the COL2A1 protein, which disrupts the formation of stable, functional type II collagen molecules. The lack of functional type II collagen interferes with the development of bones and other connective tissues, which leads to the characteristic signs and symptoms of Kniest dysplasia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/kniest-dysplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Kniest dysplasia?"},{"bodyHtml":"<p>People with Kniest dysplasia are born with a short torso and short arms and legs. Adult height ranges from approximately 42 to 57 inches. Other skeletal problems may include a rounded upper back that also curves to the side (kyphoscoliosis), flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the legs, and inward- and upward-turning feet (clubfeet). A distinguishing feature of Kniest dysplasia is abnormal cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development; most cartilage is later converted to bone. People with Kniest dysplasia have tiny holes in their cartilage, which makes the cartilage look like Swiss cheese when seen with medical imaging.</p><p>Individuals with Kniest dysplasia often have distinctive facial features, which include a round, flat face with prominent and wide-set eyes.  Some affected infants are born with an opening in the roof of the mouth (cleft palate). Infants with Kniest dysplasia may also have breathing problems due to a windpipe that is too flexible. Enlarged joints that cause pain and restrict movement are another sign of Kniest dysplasia. These joint problems typically lead to early-onset arthritis. Many people with Kniest dysplasia also have hearing loss and problems with vision, such as severe nearsightedness (myopia) and tearing of the light-sensitive tissue at the back of the eye (retinal detachment).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/kniest-dysplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"kniest-dysplasia","sourceDocuments":[{"name":"Kniest dysplasia","reviewed":"2024-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:44.291096+00:00","label":"Causes","pageSha256":"12234d4dfad03f393c863c6ed2b0b9eb7783acf30c070bd4b34f837c097f0dbb","sourceUrl":"https://medlineplus.gov/genetics/condition/kniest-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/kniest-dysplasia"}],"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":"Kniest dysplasia"},"schemaVersion":1}