{"Name":"Thickened earlobes-conductive deafness syndrome","DiseaseID__c":"GARD:0002195","id":2195,"encodedName":"thickened-earlobes-conductive-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Thickened earlobes-conductive deafness syndrome","Xref_IDs__c":"722476007; C1851896; MEDGEN:343676; MONDO:0007504; OMIM:128980; ORPHA:2405","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":"MONDO:0007504","Disease_Description__c":"Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.","GARD_Name__c":"Thickened earlobes-conductive deafness syndrome","GARD_Synonym__c":"earlobes, thickened, with conductive deafness from incudostapedial abnormalities; escher-hirt syndrome; thickened earlobes-conductive hearing loss syndrome","Curated_Disease_Description_Source__c":"ORPHA:2405","Curated_Disease_Description__c":"Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. The mode of inheritance is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2405","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007504","ORPHANET_ID__c":"ORPHA:2405","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de lóbulos gruesos de las orejas-sordera conductiva","Spanish_Description_Source__c":"ORPHA:2405","Spanish_Description__c":"Es un síndrome caracterizado por microtia con los lóbulos de las orejas engrosadas, micrognacia e hipoacusia conductiva a causa de las anomalías congénitas osiculares. Se ha descrito en dos familias. Se transmite por herencia autosómica dominante.","Spanish_Disease_Name__c":"síndrome de lóbulos gruesos de las orejas-sordera conductiva","Spanish_GARD_Synonym__c":"síndrome de escher-hirt; síndrome de lóbulos gruesos de las orejas-hipoacusia conductiva","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":"Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. The mode of inheritance is autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:2405","GARD_Synonym__c":"earlobes, thickened, with conductive deafness from incudostapedial abnormalities; escher-hirt syndrome; thickened earlobes-conductive hearing loss syndrome","Name":"Thickened earlobes-conductive deafness 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2405"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851896","Source__c":"C1851896","Xref__c":"C1851896"},{"URL__c":"https://www.omim.org/entry/128980","Source__c":"C1851896; MONDO:0007504; ORPHA:2405","Xref__c":"OMIM:128980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343676","Source__c":"C1851896","Xref__c":"MEDGEN:343676"},{"URL__c":"https://www.orpha.net/en/disease/detail/2405","Source__c":"C1851896; MONDO:0007504","Xref__c":"ORPHA:2405"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722476007","Source__c":"MONDO:0007504","Xref__c":"722476007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007504","Source__c":"GARD:0002195","Xref__c":"MONDO:0007504"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:128980","Feature__r":{"HPO_Description__c":"A bilateral type of conductive hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008513","HPO_Synonym__c":"Bilateral conductive deafness; Bilateral conductive hearing loss","HPO_Name__c":"Bilateral conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128980","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128980","Feature__r":{"HPO_Description__c":"An abnormality of the malleus, an ossicle in the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011454","HPO_Synonym__c":"Abnormality of the malleus","HPO_Name__c":"Abnormal malleus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128980","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200111","HPO_Name__c":"Absent stapes head","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128980","Feature__r":{"HPO_Description__c":"A type of conductive deafness with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008591","HPO_Synonym__c":"Congenital conductive deafness; Congenital conductive hearing loss","HPO_Name__c":"Congenital conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128980","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128980","Feature__r":{"HPO_Description__c":"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004452","HPO_Synonym__c":"Malformed ossicles; Ossicular malformation","HPO_Name__c":"Abnormality of the middle ear ossicles","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["earlobes, thickened, with conductive deafness from incudostapedial abnormalities"," escher-hirt syndrome"," thickened earlobes-conductive hearing loss syndrome"]}