{"Name":"Macrostomia-preauricular tags-external ophthalmoplegia syndrome","DiseaseID__c":"GARD:0019044","id":19044,"encodedName":"macrostomia-preauricular-tags-external-ophthalmoplegia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Macrostomia-preauricular tags-external ophthalmoplegia syndrome","Xref_IDs__c":"C4509840; MEDGEN:1391725; MONDO:0019387; ORPHA:83619","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019387","Disease_Description__c":"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.","GARD_Name__c":"Macrostomia-preauricular tags-external ophthalmoplegia syndrome","GARD_Synonym__c":"macrostomia, preauricular tag, external ophthalmoplegia syndrome","Curated_Disease_Description_Source__c":"MONDO:0019387","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:83619","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019387","ORPHANET_ID__c":"ORPHA:83619","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de macrostomia-apéndices preauriculares-oftalmoplejía externa","Spanish_Description_Source__c":"ORPHA:83619","Spanish_Description__c":"Es un trastorno poco frecuente del desarrollo durante la embriogénesis caracterizado por macrostomía o anomalías del contorno de la boca, apéndices o depresiones puntiformes preauriculares y ptosis uni- o bilateral debido a oftalmoplejía externa. Este síndrome pertenece al espectro óculo-aurículo-vertebral, un trastorno del desarrollo que afecta las estructuras derivadas del primer y segundo arco branquial.","Spanish_Disease_Name__c":"síndrome de macrostomia-apéndices preauriculares-oftalmoplejía externa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.","Curated_Disease_Description_Source__c":"MONDO:0019387","GARD_Synonym__c":"macrostomia, preauricular tag, external ophthalmoplegia syndrome","Name":"Macrostomia-preauricular tags-external ophthalmoplegia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Neonatal","Provided_By__c":"ORPHA:83619"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:83619"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4509840","Source__c":"C4509840","Xref__c":"C4509840"},{"URL__c":"https://www.orpha.net/en/disease/detail/83619","Source__c":"C4509840; MONDO:0019387; ORPHA:83619","Xref__c":"ORPHA:83619"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1391725","Source__c":"C4509840","Xref__c":"MEDGEN:1391725"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019387","Source__c":"GARD:0019044","Xref__c":"MONDO:0019387"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723366001","Source__c":"C4509840","Xref__c":"723366001"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83619","HPO_Frequency__c":"Frequent (30-79%)","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:83619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the outline, configuration, or contour of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011338","HPO_Synonym__c":"Abnormality of mouth shape; Anomaly of mouth shape","HPO_Name__c":"Abnormality of mouth shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83619","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased posterolateral protrusion of the tragus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011272","HPO_Synonym__c":"Hypoplastic tragus; Hypotrophic tragus; Small tragus","HPO_Name__c":"Underdeveloped tragus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83619","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Small indentation anterior to the insertion of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004467","HPO_Synonym__c":"Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus","HPO_Name__c":"Preauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of one or more extraocular muscles that are responsible for eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000602","HPO_Synonym__c":"Eye muscle paralysis; Paralysis of extraocular eye movement","HPO_Name__c":"Ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83619","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000384","HPO_Synonym__c":"Ear tag; Periauricular skin tag; Preauricular acrochordon; Preauricular fibroepithelial polyp; Preauricular skin tags; Preauricular tag; Preauricular tags","HPO_Name__c":"Preauricular skin tag","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83619","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000154","HPO_Synonym__c":"Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth","HPO_Name__c":"Wide mouth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["macrostomia, preauricular tag, external ophthalmoplegia syndrome"]}