{"Name":"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome","DiseaseID__c":"GARD:0017926","id":17926,"encodedName":"x-linked-external-auditory-canal-atresia-dilated-internal-auditory-canal-facial-dysmorphism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome","Xref_IDs__c":"C4746975; DOID:0111738; MEDGEN:1648389; MONDO:0044702; OMIM:301018; ORPHA:500188","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:500188","Disease_Description__c":"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.","GARD_Name__c":"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome","GARD_Synonym__c":"deafness, x-linked 7; dfnx7","Curated_Disease_Description_Source__c":"ORPHA:500188","Curated_Disease_Description__c":"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:500188","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044702","ORPHANET_ID__c":"ORPHA:500188","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de atresia del canal auditivo externo-canal auditivo interno dilatado-dismorfia facial ligado al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de atresia del canal auditivo externo-canal auditivo interno dilatado-dismorfia facial ligado al cromosoma x","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98036","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 syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.","Curated_Disease_Description_Source__c":"ORPHA:500188","GARD_Synonym__c":"deafness, x-linked 7; dfnx7","Name":"X-linked external auditory canal atresia-dilated internal auditory canal-facial","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:500188"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111738","Source__c":"MONDO:0044702","Xref__c":"DOID:0111738"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4746975","Source__c":"C4746975","Xref__c":"C4746975"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648389","Source__c":"C4746975","Xref__c":"MEDGEN:1648389"},{"URL__c":"https://www.orpha.net/en/disease/detail/500188","Source__c":"C4746975; MONDO:0044702","Xref__c":"ORPHA:500188"},{"URL__c":"https://www.omim.org/entry/301018","Source__c":"C4746975; MONDO:0044702; ORPHA:500188","Xref__c":"OMIM:301018"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044702","Source__c":"GARD:0017926","Xref__c":"MONDO:0044702"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GPRASP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:301018","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or failure to form of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000413","HPO_Synonym__c":"Absent auditory canals; Absent ear canal; Absent external auditory canals; Atretic auditory canal; Atretic auditory canals; Atretic external auditory canal; Atretic external auditory canals; Auditory canal atresia; External acoustic meatus atresia; External auditory canal atresia; External auditory meatal atresia; External auditory meatus atresia","HPO_Name__c":"Atresia of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301018","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301018","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:301018","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":"OMIM:301018","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000402","HPO_Synonym__c":"External auditory canal stenosis; Narrow auditory canals; Narrow external auditory canals; Narrow external auditory meatus; Narrowing of passageway from outer ear to middle ear; Stenotic external auditory canal","HPO_Name__c":"Stenosis of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301018","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301018","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301018","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301018","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011480","HPO_Synonym__c":"Abnormally small eyeball on one side","HPO_Name__c":"Unilateral microphthalmos","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["deafness, x-linked 7"," dfnx7"]}