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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Several genes involved in CFEOM have been identified. Mutations in the KIF21A gene cause CFEOM1 and rare cases of CFEOM3; mutations in the TUBB3 gene cause CFEOM3 and rare cases of CFEOM1; a mutation in the TUBB2B gene causes CFEOM3 with polymicrogyria; and mutations in the PHOX2A gene cause CFEOM2. The genetic cause of Tukel syndrome is unknown. The CFEOM-related genes are important for growth or development of nerve cells (neurons).</p><p>Mutations in the KIF21A, TUBB3, or TUBB2B gene impair a process called axon guidance. Through this process, the specialized extensions of neurons (axons) are directed to their correct positions. Once in the right position, axons relay messages from the brain to muscles and sensory cells and back to the brain, which is critical for controlling muscle movement and detecting sensations such as touch, pain, and heat. As a result of these mutations, axons do not reach their proper locations. Nerves in the head and face (known as cranial nerves) that control muscles that move the eyes and eyelids are particularly affected, although other nerves can also be involved. Abnormal growth of cranial nerves impairs extraocular muscle function and leads to the characteristic features of CFEOM, including restricted eye movement and droopy eyelids. Problems with other nerves likely underlie additional neurological features in people with CFEOM3.</p><p>The protein produced from the PHOX2A gene is involved in neuron development, particularly of cranial nerves III and IV, which are necessary for normal eye movement. Mutations likely eliminate the function of the PHOX2A protein, which prevents the normal development of these cranial nerves and impairs control of the extraocular muscles.</p><p>Studies suggest that a gene associated with Tukel syndrome may be located near one end of chromosome 21. Some people with features of CFEOM do not have mutations in the genes mentioned above, indicating that other genes that have not been identified may also be involved in the condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Congenital fibrosis of the extraocular muscles?"},{"bodyHtml":"<p>Researchers have identified several forms of CFEOM, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome (sometimes called CFEOM4). The specific problems with eye movement vary among the types, and some types are associated with additional signs and symptoms. People with CFEOM1 and CFEOM2 have only the eye problems described above. In CFEOM1, the eyes typically point downward, whereas in CFEOM2, the eyes usually turn outward.</p><p>CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal head size (microcephaly); muscle weakness in the face; nonfunctioning vocal cords; and a set of symptoms called Kallmann syndrome, which features delayed or absent puberty and an impaired sense of smell. Some affected individuals develop pain, weakness, or a decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood.</p><p>Brain abnormalities can also occur in people with CFEOM3. Some have abnormal development of the white matter, which is brain tissue containing nerve cell fibers (axons) that transmit nerve impulses. A particular form of CFEOM3, known as CFEOM3 with polymicrogyria, is characterized by abnormal development of the brain, in which the folds and ridges on the surface of the brain are smaller and more numerous than usual.</p><p>Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"congenital-fibrosis-of-the-extraocular-muscles","sourceDocuments":[{"name":"Congenital fibrosis of the extraocular muscles","reviewed":"2019-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:36.017783+00:00","label":"Causes","pageSha256":"0d5fb29e646d7473a53d27148d901ed3075a66c1ab6cb0ac12497e3ca4af9dd9","sourceUrl":"https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles"}],"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":"Congenital fibrosis of the extraocular muscles"},"schemaVersion":1}