{"Name":"Microtia-Anotia","DiseaseID__c":"GARD:0000431","id":431,"encodedName":"microtia-anotia","IsDeleted":false,"Disease_Name_Full__c":"Microtia-Anotia","Xref_IDs__c":"35045004; C1833486; D065817; MEDGEN:322201; MONDO:0010920; OMIM:600674; ORPHA:83463; Q17.2","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010920","Disease_Description__c":"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","GARD_Name__c":"Microtia-Anotia","GARD_Synonym__c":"congenital microtias; m-a; microtia; microtia, congenital; microtias, congenital","Curated_Disease_Description_Source__c":"ORPHA:83463","Curated_Disease_Description__c":"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is usually characterized by unilateral, or in some cases bilateral, small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:83463","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010920","ORPHANET_ID__c":"ORPHA:83463","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microtia","Spanish_Description_Source__c":"ORPHA:83463","Spanish_Description__c":"Es una malformación congénita del oído externo, visto más frecuentemente en varones, que se produce esporádicamente o es heredado, que se caracteriza por aurículas pequeñas y de forma anormal unilaterales (79-93% de los casos, 60% de los cuales afecta a la oreja derecha) o bilaterales, y que a menudo se asocia con atresia o estenosis del conducto auditivo, trastornos de déficit de atención y retraso en el desarrollo del lenguaje. La variación del tamaño de la aurícula oscila desde el grado I, donde la aurícula es ligeramente más pequeña de lo normal, al grado IV, también conocido como anotia, donde hay una ausencia completa del oído externo y del conducto auditivo.","Spanish_Disease_Name__c":"microtia","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 congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is usually characterized by unilateral, or in some cases bilateral, small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","Curated_Disease_Description_Source__c":"ORPHA:83463","GARD_Synonym__c":"congenital microtias; m-a; microtia; microtia, congenital; microtias, congenital","Name":"Microtia-Anotia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"}],"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":"Infancy","Provided_By__c":"ORPHA:83463"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:83463"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=35045004","Source__c":"MONDO:0010920","Xref__c":"35045004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322201","Source__c":"C1833486","Xref__c":"MEDGEN:322201"},{"URL__c":"https://www.orpha.net/en/disease/detail/83463","Source__c":"C1833486; MONDO:0010920","Xref__c":"ORPHA:83463"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q17.2","Source__c":"MONDO:0010920","Xref__c":"Q17.2"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C065817","Source__c":"MONDO:0010920","Xref__c":"D065817"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833486","Source__c":"C1833486","Xref__c":"C1833486"},{"URL__c":"https://www.omim.org/entry/600674","Source__c":"C1833486; MONDO:0010920; ORPHA:83463","Xref__c":"OMIM:600674"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010920","Source__c":"GARD:0000431","Xref__c":"MONDO:0010920"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Frequent (30-79%)","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:83463","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete absence of any auricular structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009892","HPO_Name__c":"Anotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040119","HPO_Name__c":"Unilateral conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the helix, i.e., of the outer rim of the pinna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008589","HPO_Synonym__c":"Underdeveloped helices","HPO_Name__c":"Hypoplastic helices","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001360","HPO_Synonym__c":"Single brain ventricle","HPO_Name__c":"Holoprosencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83463","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["congenital microtias"," m-a"," microtia"," microtia, congenital"," microtias, congenital"]}