loading...| Preferred Name |
Microtia |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_83463 |
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| definition |
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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Not applicable Autosomal recessive Autosomal dominant |
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| hasDbXref |
ICD-11:LA22.0 MedDRA:10027555 OMIM:600674 OMIM:128800 ICD-10:Q17.2 MeSH:D065817 UMLS:C0152423 |
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| label |
Microtia |
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| notation |
ORPHA:83463 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_83463 |
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| prefLabel |
Microtia |
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| present_in |
Worldwide AND has_birth_prevalence_average_value : 15.5 AND has_birth_prevalence_range : 1-5 / 10 000 Chile AND has_birth_prevalence_average_value : 83.0 AND has_birth_prevalence_range : 6-9 / 10 000 Finland AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 43.4 AND has_birth_prevalence_range : 1-5 / 10 000 Ecuador AND has_birth_prevalence_average_value : 174.0 AND has_birth_prevalence_range : >1 / 1000 Sweden AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 13.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 38.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 |
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| subClassOf |