ORPHA:140963
Bilateral microtia-deafness-cleft palate syndrome
Synonyms: Bilateral microtia-hearing loss-cleft palate syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bilateral microtia-deafness-cleft palate syndrome | Bilateral microtia-hearing loss-cleft palate syndrome |
| fr | Syndrome de microtie bilatérale-surdité-fente palatine | |
| de | Bilaterale Mikrotie-Schwerhörigkeit-Gaumenspalte-Syndrom | |
| es | Síndrome de microtia bilateral-sordera-paladar hendido | Síndrome de microtia bilateral-hipoacusia-paladar hendido |
| it | Microtia bilaterale - sordità - palatoschisi | |
| nl | Bilaterale microtie - doofheid - gespleten gehemelte-syndroom | Bilaterale microtie - gehoorverlies - gespleten gehemelte-syndroom |
| pt | Síndrome de microtia bilateral-surdez-fenda palatina | |
| pl | Obustronna mikrocja - głuchota - rozszczep podniebienia | = en |
| cs | Syndrom zahrnující bilaterální mikrocii, hluchotu a rozštěp patra | = en |
| uk | Синдром двосторонньої мікротії-глухоти-розщілини піднебіння | Синдром двосторонньої мікротії-глухоти-розщілини піднебіння |
| zh | 双侧小耳畸形-听力障碍-腭裂综合征 | 双侧小耳畸形-听力损失-腭裂综合征 |
| tr | Bilateral mikrotia-sağırlık-yarık damak sendromu | Bilateral mikrotia-işitme kaybı-yarık damak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612290 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0012854 | E | validated | |
| UMLS | C4303551 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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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 | 18394579[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 23775976[PMID]_27503514[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23775976[PMID]_27503514[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140963
- This record as JSON: /data/d/140963.json