Conductive deafness-malformed external ear syndrome
Synonyms: Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Conductive deafness-malformed external ear syndrome | Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome |
| fr | Syndrome de surdité de conduction-anomalie de l'oreille externe | Syndrome de Mengel-Konigsmark |
| de | Schallleitungsschwerhörigkeit - Fehlbildungen des äußeren Ohres | Mengel-Konigsmark-Syndrom |
| es | Síndrome de sordera conductiva-malformación del pabellón auricular | Síndrome de Mengel-Konigsmark · Síndrome de hipoacusia conductiva-malformación del pabellón auricular |
| it | Sindrome sordità di conduzione e malformazioni dell'orecchio esterno | |
| nl | Conductieve doofheid - misvormd buitenoor-syndroom | Conductief gehoorverlies - misvormd buitenoor-syndroom · Syndroom van Mengel-Konigsmark |
| pt | Síndrome de surdez de transmissão-malformação do pavilhão auricular | Síndrome Mengel-Konigsmark · Síndrome de perda auditiva de transmissão-malformação do pavilhão auricular |
| pl | Głuchota przewodzeniowa - źle wykształcone ucho zewnętrzne | Zespół Mengela i Konigsmarka |
| cs | Syndrom zahrnující převodní nedoslýchavost a malformace vnějšího ucha | Mengelův-Konigsmarkův syndrom · Mengel-Konigsmarkův syndrom |
| uk | Синдром кондуктивної глухоти - аномалії розвитку зовнішнього вуха | Синдром кондуктивної приглухуватості - деформації зовнішнього вуха · Синдром Менгеля-Конігсмарка |
| zh | 传导性耳聋-外耳畸形综合征 | Mengel-Konigsmark综合征 |
| tr | İletken sağırlık-bozuk eksternal kulak sendromu | İletim tipi işitme kaybı-kusurlu eksternal kulak sendromu · Mengel-Konigsmark sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221300 | E | validated | |
| ICD-10 | Q17.8 | NTBT | attributed | validated |
| MONDO | 0009083 | E | validated | |
| MeSH | C537239 | E | validated | |
| UMLS | C2931454 | E | validated | |
| GARD | 1460 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 5771216[PMID]_624552[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5771216[PMID]_624552[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0000369 | Low-set ears | |
| HP:0008551 | Microtia | |
| Frequent (79-30%) | ||
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0000135 | Hypogonadism | |
| HP:0000396 | Overfolded helix | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000402 | Stenosis of the external auditory canal | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3216
- This record as JSON: /data/d/3216.json