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neck","onset_id":null,"reference":"ORPHA:79345","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1\">X-linked chondrodysplasia punctata 1</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSL gene. This gene provides instructions for making an enzyme called arylsulfatase L. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.</p><p>Between 60 and 75 percent of males with the characteristic features of X-linked chondrodysplasia punctata 1 have a mutation in the ARSL gene. These mutations reduce or eliminate the function of arylsulfatase L. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSL gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase L. Researchers are working to determine how a shortage of arylsulfatase L disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1.</p><p>Some people with the features of X-linked chondrodysplasia punctata 1 do not have an identified mutation in the ARSE gene or a deletion involving the gene. Other, as-yet-unidentified genetic and environmental factors may also be involved in causing this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes X-linked chondrodysplasia punctata 1?"},{"bodyHtml":"<p>Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge.</p><p>People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-chondrodysplasia-punctata-1","sourceDocuments":[{"name":"X-linked chondrodysplasia punctata 1","reviewed":"2011-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:54.574437+00:00","label":"Causes","pageSha256":"aa42c5e2c6023975f92fc60a00f08da458cad4388427939e5bd6cc97b47cfcda","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1"}],"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 chondrodysplasia punctata 1"},"schemaVersion":1}