Tukel Syndrome (FEOM)

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Disease Ontology 12 DOID:0080143 OMIM® 57 609428 OMIM Phenotypic Series 57 PS135700 KEGG 36 H00838 ICD10 via Orphanet 33 H49.8 UMLS via Orphanet 71 C1302995

Orphanet 58 ORPHA45358 MedGen 41 C1836217 SNOMED-CT via HPO 68 11934000 253930002 258211005 373413006 400946004 more EFO 17 EFO_1001985 UMLS 70 C1302995 C1836217

MedlinePlus Genetics : ⁴³ Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.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.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.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.Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.

MalaCards based summary : Tukel Syndrome, also known as congenital fibrosis of the extraocular muscles, is related to cortical dysplasia, complex, with other brain malformations 1 and fibrosis of extraocular muscles, congenital, 1, and has symptoms including ophthalmoplegia An important gene associated with Tukel Syndrome is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Phagosome and Gap junction. The drugs Angiogenesis Inhibitors and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related phenotypes are ptosis and carpal synostosis

Disease Ontology : ¹² An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.

GARD : ²⁰ Congenital fibrosis of extraocular muscles (CFEOM) refers to a group of rare conditions that affect the normal development and function of the muscles that control eye movement and position. In general, people affected by these conditions are unable to move their eyes in certain directions and often have strabismus and/or droopy eyelids ( ptosis ); however, the severity of the condition and the associated signs and symptoms vary significantly by subtype. CFEOM can be caused by changes ( mutations ) in several genes, including KIF21A, TUBB3, PHOX2A, and TUBB2B. In some cases, the underlying genetic cause is unknown. CFEOM can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype. Treatment is based on the signs and symptoms present in each person.

KEGG : ³⁶ Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Several clinical phenotypes for familial CFEOM have been delineated.

More information from OMIM: 609428 PS135700

GeneReviews: NBK1348

Clinical features from OMIM®:

609428 (Updated 05-Apr-2021)

Search NIH Clinical Center for Tukel Syndrome

Search GEO for disease gene expression data for Tukel Syndrome.