{"Name":"Jaw-winking syndrome","DiseaseID__c":"GARD:0006972","id":6972,"encodedName":"jaw-winking-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Jaw-winking syndrome","Xref_IDs__c":"5127009; C0266521; C535908; DOID:560; MEDGEN:120582; MONDO:0007946; OMIM:154600; ORPHA:91412","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007946","Disease_Description__c":"A rare ophthalmic disorder characterized by congenital ptosis associated with pterygoid-levator synkinesis (also called jaw-winking).","GARD_Name__c":"Jaw-winking syndrome","GARD_Synonym__c":"abnormal eyelid innervation syndrome; jaw winking; jaw-blinking; jaw-winking; mandibulo-palpebral synkinesis-ptosis syndrome; marcus gunn jaw winking synkinesis; marcus gunn jaw-winking syndrome; marcus gunn phenomenon; marcus gunn phenonemon; marcus gunn syndrome; marcus-gunn jaw winking; marcus-gunn phenomenon; marcus-gunn syndrome; maxillopalpebral synkinesis; pterygoid-levator synkinesis; trigemino-oculomotor synkinesis","Curated_Disease_Description_Source__c":"GARD:0006972","Curated_Disease_Description__c":"Marcus Gunn phenomenon is a rare condition characterized by movement of the upper eyelid in a rapid rising motion (a \"wink\") each time the jaw moves. The wink phenomenon may be elicited by opening the mouth, thrusting the jaw to the side, jaw protrusion, chewing, smiling, or sucking. It is usually present at birth and may occur with other eye abnormalities (such as strabismus) or vision problems. Although it usually affects one eye, it can affect both eyes in rare cases. The exact cause is not known. Marcus Gunn phenomenon is generally sporadic, but familial cases have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:91412","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007946","ORPHANET_ID__c":"ORPHA:91412","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de marcus-gunn","Spanish_Description_Source__c":"ORPHA:91412","Spanish_Description__c":"Es un síndrome caracterizado por ptosis asociada a sincinesia maxilopalpebral.","Spanish_Disease_Name__c":"síndrome de marcus-gunn","Spanish_GARD_Synonym__c":"fenómeno de marcus-gunn","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":"Marcus Gunn phenomenon is a rare condition characterized by movement of the upper eyelid in a rapid rising motion (a \"wink\") each time the jaw moves. The wink phenomenon may be elicited by opening the mouth, thrusting the jaw to the side, jaw protrusion, chewing, smiling, or sucking. It is usually present at birth and may occur with other eye abnormalities (such as strabismus) or vision problems. Although it usually affects one eye, it can affect both eyes in rare cases. The exact cause is not known. Marcus Gunn phenomenon is generally sporadic, but familial cases have been reported.","Curated_Disease_Description_Source__c":"GARD:0006972","GARD_Synonym__c":"abnormal eyelid innervation syndrome; jaw winking; jaw-blinking; jaw-winking; mandibulo-palpebral synkinesis-ptosis syndrome; marcus gunn jaw winking synkinesis; marcus gunn jaw-winking syndrome; marcus gunn phenomenon; marcus gunn phenonemon; marcus gunn syndrome; marcus-gunn jaw winking; marcus-gunn phenomenon; marcus-gunn syndrome; maxillopalpebral synkinesis; pterygoid-levator synkinesis; trigemino-oculomotor synkinesis","Name":"Jaw-winking syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Facial Paralysis & Bell's Palsy Foundation","Website__c":"https://facialparalysisfoundation.org/"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:91412"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91412"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/154600","Source__c":"C0266521; MONDO:0007946; ORPHA:91412","Xref__c":"OMIM:154600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120582","Source__c":"C0266521","Xref__c":"MEDGEN:120582"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266521","Source__c":"C0266521","Xref__c":"C0266521"},{"URL__c":"https://www.orpha.net/en/disease/detail/91412","Source__c":"C0266521; MONDO:0007946; ORPHA:91412","Xref__c":"ORPHA:91412"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535908","Source__c":"MONDO:0007946","Xref__c":"C535908"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=5127009","Source__c":"C0266521; MONDO:0007946","Xref__c":"5127009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A560","Source__c":"MONDO:0007946","Xref__c":"DOID:560"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007946","Source__c":"GARD:0006972","Xref__c":"MONDO:0007946"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025186","Source__c":"C0266521","Xref__c":"HP:0025186"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A unilateral form of ptosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007687","HPO_Synonym__c":"Dropping of one upper eyelid","HPO_Name__c":"Unilateral ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000078","HPO_Synonym__c":"Genital abnormalities; Genital abnormality; Genital anomalies; Genital defects","HPO_Name__c":"Abnormality of the genital system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031747","HPO_Name__c":"Superior rectus muscle underaction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020041","HPO_Name__c":"Double elevator palsy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to perceive and distinguish scents (odors).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004408","HPO_Synonym__c":"Abnormal sense of smell; Abnormality of olfaction; Abnormality of the sense of smell; Smell defect","HPO_Name__c":"Abnormality of the sense of smell","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","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:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000589","HPO_Synonym__c":"Notched pupil; Ocular coloboma; Ocular colobomas","HPO_Name__c":"Coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031703","HPO_Name__c":"Abnormal ear morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Always (100%)","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:91412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025584","HPO_Name__c":"Hypotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inequality of refractive power of the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012803","HPO_Name__c":"Anisometropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025514","HPO_Synonym__c":"Morning glory disk anomaly; Morning glory optic disc","HPO_Name__c":"Morning glory anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the fifth cranial nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010824","HPO_Synonym__c":"Abnormal trigeminal nerve morphology; Abnormality of the fifth cranial nerve; Abnormality of the nervus trigeminus","HPO_Name__c":"Abnormal fifth cranial nerve morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91412","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["abnormal eyelid innervation syndrome"," jaw winking"," jaw-blinking"," jaw-winking"," mandibulo-palpebral synkinesis-ptosis syndrome"," marcus gunn jaw winking synkinesis"," marcus gunn jaw-winking syndrome"," marcus gunn phenomenon"," marcus gunn phenonemon"," marcus gunn syndrome"," marcus-gunn jaw winking"," marcus-gunn phenomenon"," marcus-gunn syndrome"," maxillopalpebral synkinesis"," pterygoid-levator synkinesis"," trigemino-oculomotor synkinesis"]}