{"Name":"Tukel syndrome","DiseaseID__c":"GARD:0009814","id":9814,"encodedName":"tukel-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tukel syndrome","Xref_IDs__c":"C1836217; C536925; DOID:0081021; MEDGEN:332153; MONDO:0012270; OMIM:609428","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:609428","Disease_Description__c":"Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least eight genetically defined strabismus syndromes (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria) characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, Kallmann syndrome, facial weakness, and vocal cord paralysis; and/or may develop a progressive sensorimotor axonal polyneuropathy. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. Those with CFEOM3 with polymicrogyria also have microcephaly and intellectual disability.","GARD_Name__c":"Tukel syndrome","GARD_Synonym__c":"cfeom-u; fibrosis of extraocular muscles, congenital, 4; fibrosis of extraocular muscles, congenital, with ulnar hand anomalies","Curated_Disease_Description_Source__c":"OMIM:609428","Curated_Disease_Description__c":"This rare eye movement and brain development disease belongs to a group called congenital fibrosis of the extraocular muscles, which are disorders present at birth that limit eye movement. These diseases cause lifelong eye muscle weakness, leading to trouble moving the eyes up, down, or side to side, and often droopy upper eyelids. People often adapt by holding their head in an unusual position and moving their head instead of their eyes to look around. In the form known as Tukel syndrome, individuals also have fewer fingers than usual or fingers that are partially joined on the side of the hand away from the thumb. Other related forms in this group may involve intellectual disability, social difficulties, hormone problems such as Kallmann syndrome, facial weakness, and vocal cord paralysis, or a progressive nerve disease that affects both movement and sensation. Some forms also include a smaller than usual head size and changes in brain structure called polymicrogyria, along with intellectual disability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:609428","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012270","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"This rare eye movement and brain development disease belongs to a group called congenital fibrosis of the extraocular muscles, which are disorders present at birth that limit eye movement. These diseases cause lifelong eye muscle weakness, leading to trouble moving the eyes up, down, or side to side, and often droopy upper eyelids. People often adapt by holding their head in an unusual position and moving their head instead of their eyes to look around. In the form known as Tukel syndrome, individuals also have fewer fingers than usual or fingers that are partially joined on the side of the hand away from the thumb. Other related forms in this group may involve intellectual disability, social difficulties, hormone problems such as Kallmann syndrome, facial weakness, and vocal cord paralysis, or a progressive nerve disease that affects both movement and sensation. Some forms also include a smaller than usual head size and changes in brain structure called polymicrogyria, along with intellectual disability.","Curated_Disease_Description_Source__c":"OMIM:609428","GARD_Synonym__c":"cfeom-u; fibrosis of extraocular muscles, congenital, 4; fibrosis of extraocular muscles, congenital, with ulnar hand anomalies","Name":"Tukel syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009814","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1348","Source__c":"Gene Review","Xref__c":"NBK1348"},{"URL__c":"https://www.omim.org/entry/609428","Source__c":"C1836217; MONDO:0012270","Xref__c":"OMIM:609428"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836217","Source__c":"C1836217","Xref__c":"C1836217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332153","Source__c":"C1836217","Xref__c":"MEDGEN:332153"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081021","Source__c":"MONDO:0012270","Xref__c":"DOID:0081021"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536925","Source__c":"MONDO:0012270","Xref__c":"C536925"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012270","Source__c":"GARD:0009814","Xref__c":"MONDO:0012270"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007831","HPO_Name__c":"Nonprogressive restrictive external ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001491","HPO_Synonym__c":"CFEOM; Congenital fibrosis of the extraocular muscles; Congenital ophthalmoplegia","HPO_Name__c":"Congenital fibrosis of extraocular muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009702","HPO_Synonym__c":"Carpal bone fusion; Carpal fusion; Fused carpal bones; Fusion of carpal bones; Synostosis involving the carpal bones","HPO_Name__c":"Carpal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007936","HPO_Synonym__c":"Restrictive ophthalmoplegia","HPO_Name__c":"Restrictive external ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"Congenital absence of a carpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004231","HPO_Synonym__c":"Absent carpal bone; Absent carpal bones; Absent carpal ossification center; Aplastic carpal bone","HPO_Name__c":"Carpal bone aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Description__c":"A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001477","HPO_Synonym__c":"Compensatory head tilt/chin elevation","HPO_Name__c":"Compensatory chin elevation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609428","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006210","HPO_Name__c":"Postaxial oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Muscular Dystrophy"],"Disease Category":["Muscular Dystrophy"],"Specialist":["Neuro-Ophthalmology","Neuromuscular medicine"]},"synonyms":["cfeom-u"," fibrosis of extraocular muscles, congenital, 4"," fibrosis of extraocular muscles, congenital, with ulnar hand anomalies"]}