{"Name":"Deafness-ear malformation-facial palsy syndrome","DiseaseID__c":"GARD:0001684","id":1684,"encodedName":"deafness-ear-malformation-facial-palsy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Deafness-ear malformation-facial palsy syndrome","Xref_IDs__c":"716243005; C1852292; C565123; MEDGEN:338900; MONDO:0007421; OMIM:124490; ORPHA:3232","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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007421","Disease_Description__c":"Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.","GARD_Name__c":"Deafness-ear malformation-facial palsy syndrome","GARD_Synonym__c":"deafness, conductive stapedial, with ear malformation and facial palsy; hearing loss-ear malformation-facial palsy syndrome; sellars-beighton syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Deafness-ear malformation-facial palsy syndrome is a condition that affects hearing, the shape of the outer ear, and facial movement. People with this condition have difficulty hearing because of differences in the formation of a small bone in the ear called the stapes. They may also have differences in the way their outer ears look and experience weakness or paralysis in the muscles of their face. This condition is passed down from parents to their children and is caused by a change in a gene that is inherited in an autosomal dominant pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3232","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007421","ORPHANET_ID__c":"ORPHA:3232","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera-malformaciones del oído-parálisis facial","Spanish_Description_Source__c":"ORPHA:3232","Spanish_Description__c":"Es un síndrome caracterizado por sordera conductiva profunda debido a anomalías estapédicas asociadas con malformaciones variables de los pabellones auriculares y parálisis facial. Se ha descrito en tres hermanos y su madre. La herencia es autosómica dominante.","Spanish_Disease_Name__c":"síndrome de sordera-malformaciones del oído-parálisis facial","Spanish_GARD_Synonym__c":"síndrome de hipoacusia-malformaciones del oído-parálisis facial; síndrome de sellars-beighton","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":"Deafness-ear malformation-facial palsy syndrome is a condition that affects hearing, the shape of the outer ear, and facial movement. People with this condition have difficulty hearing because of differences in the formation of a small bone in the ear called the stapes. They may also have differences in the way their outer ears look and experience weakness or paralysis in the muscles of their face. This condition is passed down from parents to their children and is caused by a change in a gene that is inherited in an autosomal dominant pattern.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"deafness, conductive stapedial, with ear malformation and facial palsy; hearing loss-ear malformation-facial palsy syndrome; sellars-beighton syndrome","Name":"Deafness-ear malformation-facial palsy 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":"Neonatal","Provided_By__c":"ORPHA:3232"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565123","Source__c":"MONDO:0007421","Xref__c":"C565123"},{"URL__c":"https://www.orpha.net/en/disease/detail/3232","Source__c":"C1852292; MONDO:0007421","Xref__c":"ORPHA:3232"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716243005","Source__c":"MONDO:0007421","Xref__c":"716243005"},{"URL__c":"https://www.omim.org/entry/124490","Source__c":"C1852292; MONDO:0007421; ORPHA:3232","Xref__c":"OMIM:124490"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338900","Source__c":"C1852292","Xref__c":"MEDGEN:338900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852292","Source__c":"C1852292","Xref__c":"C1852292"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007421","Source__c":"GARD:0001684","Xref__c":"MONDO:0007421"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the antihelix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009739","HPO_Synonym__c":"Hypoplastic antihelix","HPO_Name__c":"Hypoplasia of the antihelix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the antihelix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009738","HPO_Synonym__c":"Abnormal antehelix; Abnormal anthelix; Abnormal antihelix","HPO_Name__c":"Abnormal antihelix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3232","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the ear lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009906","HPO_Synonym__c":"Absent/small ear lobes; Absent/underdeveloped ear lobes","HPO_Name__c":"Aplasia/Hypoplasia of the earlobes","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008628","HPO_Synonym__c":"Stapedial abnormalities","HPO_Name__c":"Abnormal stapes morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000383","HPO_Synonym__c":"Abnormality of periauricular region","HPO_Name__c":"Abnormal periauricular region morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["deafness, conductive stapedial, with ear malformation and facial palsy"," hearing loss-ear malformation-facial palsy syndrome"," sellars-beighton syndrome"]}