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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Cerebro-facio-thoracic dysplasia is caused by mutations in a gene called TMCO1. This gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow. The protein is found in the membrane of a cell structure called the endoplasmic reticulum, which acts as a storage center for calcium ions. When there is too much calcium in the endoplasmic reticulum, four TMCO1 proteins come together to form a channel that releases the excess calcium into the surrounding fluid inside the cell (cytoplasm). Calcium acts as a signal for many cellular functions including control of cell growth and division and gene activity. The proper balance of calcium ions in cells and cell compartments is important for the development and function of various tissues and organs.</p><p>TMCO1 gene mutations result in a shortage of TMCO1 proteins. Without this protein, TMCO1 channels cannot form, and excess calcium builds up in the endoplasmic reticulum. The imbalance of calcium ions disrupts development of the brain and structures in the head, face, and torso, resulting in the features of cerebro-facio-thoracic dysplasia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cerebro-facio-thoracic dysplasia?"},{"bodyHtml":"<p>In addition to intellectual disability, individuals with cerebro-facio-thoracic dysplasia have delayed development of speech and movement (motor) skills, and in some, these skills never develop. Nearly one-quarter of affected individuals never learn to speak and almost half are unable to walk. Weak muscle tone (hypotonia) and difficulty feeding occur in some affected infants. People with cerebro-facio-thoracic dysplasia can have neurodevelopmental problems, such as anxiety, autism spectrum disorder, or self-injuring behavior; however, many people with the condition are described as friendly and good-natured.</p><p>Distinctive facial features common in cerebro-facio-thoracic dysplasia include a wide, short skull (brachycephaly); highly arched eyebrows or eyebrows that grow together in the middle (synophrys); widely spaced eyes (hypertelorism); a wide nasal bridge; low-set ears; an upper lip with pronounced curves (Cupid&#x27;s bow upper lip); and small teeth (microdontia). Some affected individuals have overgrowth of the gums (gingival hyperplasia), an opening in the roof of the mouth (cleft palate), or a split in the upper lip (cleft lip).</p><p>Problems with bone development in the torso (thorax) commonly leads to bone abnormalities such as two or more ribs that are joined together (fused) or ribs that are abnormally shaped with two prongs at one end (bifid ribs). Many people with cerebro-facio-thoracic dysplasia have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; some vertebrae may also be fused. Additionally, the shoulder blades can be affected in people with this condition.</p><p>A wide variety of other features can occur in cerebro-facio-thoracic dysplasia, such as abnormalities involving the eyes, skin, or hair. Heart defects, digestive problems, or genitourinary problems (such as abnormal kidneys or reproductive organs) can also occur. Affected individuals may also have bone or joint abnormalities in other parts of the body.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cerebro-facio-thoracic-dysplasia","sourceDocuments":[{"name":"Cerebro-facio-thoracic dysplasia","reviewed":"2019-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:10.599268+00:00","label":"Causes","pageSha256":"55e751cc3f42d088da8af5bd2688d4becab7e0d2ba42cc7cc8ec52a9f632ad23","sourceUrl":"https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-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":"Cerebro-facio-thoracic dysplasia"},"schemaVersion":1}