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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ANKH gene cause autosomal dominant craniometaphyseal dysplasia. The ANKH gene provides instructions for making a protein that plays a role in the development and function of cells that build bones (osteoblasts) and cells that break down bone (osteoclasts). Osteoclasts are involved in bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. In addition, the ANKH protein transports a molecule called pyrophosphate out of cells. The pyrophosphate found outside of cells (extracellular pyrophosphate) helps control bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions.</p><p>Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia impair the maturation (differentiation) of osteoclasts, which likely disrupts bone remodeling. Reduced breakdown of bone tissue can contribute to the bone thickening characteristic of craniometaphyseal dysplasia. ANKH gene mutations may also reduce the protein&#x27;s ability to transport pyrophosphate out of cells. A shortage of extracellular pyrophosphate can increase bone mineralization, which may also contribute to the bone abnormalities.</p><p>A mutation in the GJA1 gene causes some cases of autosomal recessive craniometaphyseal dysplasia. This gene provides instructions for making a protein called connexin 43, which is involved in the development of many tissues in the body, including bone. The protein may be involved in bone remodeling. It is unclear how a mutation in the GJA1 gene leads to the particular bone abnormalities of craniometaphyseal dysplasia.</p><p>The genetic cause of many cases of autosomal recessive craniometaphyseal dysplasia is unknown. It is likely that other, unidentified genes are involved in this form of the disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Craniometaphyseal dysplasia?"},{"bodyHtml":"<p>Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excess bone formation in the jaw can delay teething (dentition) or result in absent (non-erupting) teeth. Infants with craniometaphyseal dysplasia may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can pinch (compress) the nerves that extend from the brain to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness.</p><p>The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly long bones in the legs. The ends of these bones are wider and appear less dense than usual in people with this condition.</p><p>There are two types of craniometaphyseal dysplasia, which are distinguished by their pattern of inheritance and genetic cause. They are known as the autosomal dominant and autosomal recessive types.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"craniometaphyseal-dysplasia","sourceDocuments":[{"name":"Craniometaphyseal dysplasia","reviewed":"2018-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:44.366394+00:00","label":"Causes","pageSha256":"f8eac4146664f6eb88cc120a699012199948af851950cb9dc5efe8107a32bfa2","sourceUrl":"https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/craniometaphyseal-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":"Craniometaphyseal dysplasia"},"schemaVersion":1}