Microtia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microtia | |
| fr | Microtie | |
| de | Mikrotie | |
| es | Microtia | |
| it | Microtia | |
| nl | Microtie | |
| pt | Microtia | |
| pl | Mikrotia | |
| cs | Mikrocie | |
| uk | Мікротія | |
| zh | 小耳畸形 | |
| tr | Mikroti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 128800 | BTNT | validated | |
| OMIM | 600674 | E | validated | |
| ICD-10 | Q17.2 | E | specific | validated |
| ICD-11 | LA22.0 | E | specific | validated |
| MONDO | 0010920 | E | validated | |
| MeSH | D065817 | E | validated | |
| UMLS | C0152423 | E | validated | |
| MedDRA | 10027555 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:156243Pinnae and external auditory canal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5103 | ENSG00000105996 | 604685 | 7p15.2 | homeobox A2 | 23775976[PMID] |
Prevalence and incidence
17 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 38 / 100 000 | Specific population | Value and class | Validated | 16359491[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 13 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 15.5 / 100 000 | Worldwide | Value and class | Not yet validated | 21656661[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Not yet validated | 21656661[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.7 / 100 000 | France | Value and class | Validated | 8933331[PMID] |
| Point prevalence | 1-9 / 100 000 | — | France | Class only | Validated | 8933331[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Italy | Value and class | Validated | 7666397[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Italy | Class only | Not yet validated | 7666397[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.1 / 100 000 | Sweden | Value and class | Validated | 8933331[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Sweden | Class only | Validated | 8933331[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 22 / 100 000 | United States | Value and class | Validated | 8933331[PMID]_19760683[PMID] |
| Point prevalence | 1-5 / 10 000 | — | United States | Class only | Validated | 8933331[PMID]_19760683[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 43.4 / 100 000 | Finland | Value and class | Validated | 17548114[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Finland | Class only | Validated | 17548114[PMID] |
| Prevalence at birth | >1 / 1000 | 174 / 100 000 | Ecuador | Value and class | Validated | 3771073[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 83 / 100 000 | Chile | Value and class | Validated | 17186100[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2019-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008551 | Microtia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0040119 | Unilateral conductive hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009892 | Anotia | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000750 | Delayed speech and language development | |
| HP:0008589 | Hypoplastic helices | |
| Occasional (29-5%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001360 | Holoprosencephaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17764079[PMID]_22106030[PMID]_19759387[PMID]_19759387[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83463
- This record as JSON: /data/d/83463.json