{"Name":"Bencze syndrome","DiseaseID__c":"GARD:0002633","id":2633,"encodedName":"bencze-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Bencze syndrome","Xref_IDs__c":"733046006; C1841640; C564199; MEDGEN:330655; MONDO:0007711; OMIM:141350; ORPHA:1241","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007711","Disease_Description__c":"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.","GARD_Name__c":"Bencze syndrome","GARD_Synonym__c":"hemifacial hyperplasia strabismus syndrome; hemifacial hyperplasia with strabismus; hemifacial hyperplasia-strabismus syndrome","Curated_Disease_Description_Source__c":"MONDO:0007711","Curated_Disease_Description__c":"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1241","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007711","ORPHANET_ID__c":"ORPHA:1241","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bencze","Spanish_Description_Source__c":"ORPHA:1241","Spanish_Description__c":"El síndrome de Bencze o hiperplasia hemifacial con estrabismo es un síndrome malformativo que implica un crecimiento anormal del esqueleto facial, así como de la estructura del tejido blando y los huesos, y que se caracteriza por una asimetría facial leve con el neurocráneo y los globos oculares no afectados, así como por esotropía, ambliopía y/o estrabismo convergente y, en ocasiones, hendidura submucosa del paladar. La transmisión es autosómica dominante. No ha habido descripciones posteriores en la literatura desde 1979.","Spanish_Disease_Name__c":"síndrome de bencze","Spanish_GARD_Synonym__c":"hiperplasia hemifacial-estratoísmo","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":"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.","Curated_Disease_Description_Source__c":"MONDO:0007711","GARD_Synonym__c":"hemifacial hyperplasia strabismus syndrome; hemifacial hyperplasia with strabismus; hemifacial hyperplasia-strabismus syndrome","Name":"Bencze 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1241"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330655","Source__c":"C1841640","Xref__c":"MEDGEN:330655"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733046006","Source__c":"C1841640; MONDO:0007711","Xref__c":"733046006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564199","Source__c":"MONDO:0007711","Xref__c":"C564199"},{"URL__c":"https://www.orpha.net/en/disease/detail/1241","Source__c":"C1841640; MONDO:0007711; ORPHA:1241","Xref__c":"ORPHA:1241"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1841640","Source__c":"C1841640","Xref__c":"C1841640"},{"URL__c":"https://www.omim.org/entry/141350","Source__c":"C1841640; MONDO:0007711; ORPHA:1241","Xref__c":"OMIM:141350"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007711","Source__c":"GARD:0002633","Xref__c":"MONDO:0007711"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1241","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000176","HPO_Synonym__c":"Partial thickness cleft hard palate","HPO_Name__c":"Submucous cleft hard palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1241","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1241","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"}},{"Provided_By__c":"ORPHA:1241","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:1241","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1241","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1241","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visible space between the dental arches in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010807","HPO_Synonym__c":"Absence of overlap of upper and lower teeth; Open bite; Open bite between upper and lower teeth","HPO_Name__c":"Open bite","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1241","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005325","HPO_Synonym__c":"Unusual hairline with hair growth on temples extending to lateral eyebrow","HPO_Name__c":"Extension of hair growth on temples to lateral eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["hemifacial hyperplasia strabismus syndrome"," hemifacial hyperplasia with strabismus"," hemifacial hyperplasia-strabismus syndrome"]}