{"Name":"Congenital fibrosis of extraocular muscles","DiseaseID__c":"GARD:0012590","id":12590,"encodedName":"congenital-fibrosis-of-extraocular-muscles","IsDeleted":false,"Disease_Name_Full__c":"Congenital fibrosis of extraocular muscles","Xref_IDs__c":"400946004; C1302995; C580012; DOID:0080143; HP:0001491; MEDGEN:724506; MONDO:0007614; NBK1348; OMIMPS:135700; ORPHA:45358","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0012590","Disease_Description__c":"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 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.","GARD_Name__c":"Congenital fibrosis of extraocular muscles","GARD_Synonym__c":"cfeom; congenital fibrosis of the extraocular muscles; congenital fibrosis syndrome; congenital ophthalmoplegia; feom; fibrosis of extraocular muscles, congenital; fibrosis of extraocular muscles, congenital, type 1","Curated_Disease_Description_Source__c":"GARD:0012590","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:45358","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007614","ORPHANET_ID__c":"ORPHA:45358","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibrosis congénita de músculos extraoculares","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fibrosis congénita de músculos extraoculares","Spanish_GARD_Synonym__c":"feom","Category_Linearization__c":"ORPHA:97966","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":"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.","Curated_Disease_Description_Source__c":"GARD:0012590","GARD_Synonym__c":"cfeom; congenital fibrosis of the extraocular muscles; congenital fibrosis syndrome; congenital ophthalmoplegia; feom; fibrosis of extraocular muscles, congenital; fibrosis of extraocular muscles, congenital, type 1","Name":"Congenital fibrosis of extraocular muscles","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:45358"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1302995"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012590","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1348","Source__c":"Gene Review","Xref__c":"NBK1348"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400946004","Source__c":"C1302995; MONDO:0007614","Xref__c":"400946004"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS135700","Source__c":"MONDO:0007614","Xref__c":"OMIMPS:135700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=724506","Source__c":"C1302995","Xref__c":"MEDGEN:724506"},{"URL__c":"https://www.orpha.net/en/disease/detail/45358","Source__c":"C1302995; MONDO:0007614; ORPHA:45358","Xref__c":"ORPHA:45358"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080143","Source__c":"MONDO:0007614","Xref__c":"DOID:0080143"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1302995","Source__c":"C1302995","Xref__c":"C1302995"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580012","Source__c":"MONDO:0007614","Xref__c":"C580012"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles","Source__c":"GARD:0012590","Xref__c":"https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001491","Source__c":"C1302995","Xref__c":"HP:0001491"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007614","Source__c":"GARD:0012590","Xref__c":"MONDO:0007614"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TUBA1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tuba1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TUBB2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tubb2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PHOX2A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/phox2a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KIF21A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kif21a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL25A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TUBB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tubb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009916","HPO_Synonym__c":"Asymmetric pupil sizes; Asymmetry of the pupils; Unequal pupil dilatation; Unequal pupil size","HPO_Name__c":"Anisocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002126","HPO_Synonym__c":"More grooves in brain","HPO_Name__c":"Polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030534","HPO_Name__c":"Abnormal best corrected visual acuity test","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Limited mobility of the eye to move up and down (vertically) within its socket.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025721","HPO_Name__c":"Limited vertical extraocular movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025186","HPO_Synonym__c":"Marcus Gunn jaw-winking syndrome; Pterygoid-levator synkinesis; Trigemino-oculomotor synkinesis","HPO_Name__c":"Marcus Gunn jaw winking synkinesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality involving the movement of the eye outwards.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011347","HPO_Name__c":"Abnormality of ocular abduction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012241","HPO_Name__c":"Levator palpebrae superioris atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030588","HPO_Name__c":"Abnormal visual field test","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008527","HPO_Synonym__c":"Bilateral congenital sensorineural deafness; Congenital neurosensory deafness; Congenital perceptive deafness; Congenital sensorineural deafness; Congenital sensorineural hearing loss; Hearing loss, congenital sensorineural","HPO_Name__c":"Congenital sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced velocity and acceleration in the pupillary light response.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030211","HPO_Synonym__c":"Sluggish pupillary reaction; Sluggish pupillary reactions to light","HPO_Name__c":"Slow pupillary light response","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001357","HPO_Synonym__c":"Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of skull; Rhomboid shaped cranium; Rhomboid shaped skull","HPO_Name__c":"Plagiocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anomalous movements of the eyes that occur without the subject wanting them to happen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012547","HPO_Name__c":"Abnormal involuntary eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal (non-physiological) constriction of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000616","HPO_Synonym__c":"Constricted pupils; Pupillary constriction","HPO_Name__c":"Miosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes deviated outward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000577","HPO_Synonym__c":"Outward facing eye ball","HPO_Name__c":"Exotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from the normal circular shape of the pupil","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025309","HPO_Synonym__c":"Irregular pupil","HPO_Name__c":"Abnormal pupil shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of formation (congenital absence) of the olfactory bulb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032466","HPO_Synonym__c":"Aplastic olfactory bulb; Olfactory bulb aplasia","HPO_Name__c":"Aplasia of the olfactory bulb","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the eye in the direction of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000542","HPO_Name__c":"Impaired ocular adduction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009380","HPO_Synonym__c":"Absent fingers; Aplasia of the fingers; Hand has less than 5 fingers; Hand oligodactyly","HPO_Name__c":"Finger aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:45358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The Bell phenomenon is the reflex upward movement of the front of the eyeball when the eyelids close (or blink). It protects the eye by helping to keep the cornea moist. This term refers to a lack of this phenomenon, which can be observed with certain conditions such as congenital fibrosis of the extraocular muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000709","HPO_Synonym__c":"Absent palpebral-oculogyric reflex","HPO_Name__c":"Absent Bell phenomenon","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["cfeom"," congenital fibrosis of the extraocular muscles"," congenital fibrosis syndrome"," congenital ophthalmoplegia"," feom"," fibrosis of extraocular muscles, congenital"," fibrosis of extraocular muscles, congenital, type 1"]}