Thickened earlobes-conductive deafness syndrome
Synonyms: Escher-Hirt syndrome · Thickened earlobes-conductive hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thickened earlobes-conductive deafness syndrome | Escher-Hirt syndrome · Thickened earlobes-conductive hearing loss syndrome |
| fr | Syndrome de lobe de l'oreille épais-surdité de conduction | Syndrome de Escher-Hort |
| de | Syndrom der Ohrläppchenverdickung mit Schallleitungsschwerhörigkeit | Escher-Hirt-Syndrom · Escher-Hort-Syndrom |
| es | Síndrome de lóbulos gruesos de las orejas-sordera conductiva | Síndrome de Escher-Hirt · Síndrome de lóbulos gruesos de las orejas-hipoacusia conductiva |
| it | Lobi dell'orecchio ispessiti - sordità conduttiva | Sindrome di Escher-Hirt |
| nl | Verdikte oorlellen - conductieve doofheid-syndroom | Syndroom van Escher-Hirt · Verdikte oorlellen - conductief gehoorverlies-syndroom |
| pt | Síndrome de lóbulos auriculares espessos-surdez de transmissão | Síndrome Escher-Hirt · Síndrome de lóbulos auriculares espessos-perda auditiva de transmissão |
| pl | Zgrubiałe płatki uszne - głuchota przewodzeniowa | Zespół Eschera i Hirta |
| cs | Syndrom zahrnující ztluštělé ušní lalůčky a převodní hluchotu | Escherův-Hirtův syndrom · Escher-Hirtův syndrom |
| uk | Синдром потовщеної мочки вуха - кондуктивної глухоти | Синдром Ешера-Гірта · Синдром потовщених мочок вух - кондуктивної приглухуватості |
| zh | 耳垂增厚-传导性耳聋综合征 | 耳垂增厚-传导性听力损失综合征 |
| tr | Kalınlaşmış kulak memeleri-iletken sağırlık sendromu | Escher-Hirt sendromu · Kalınlaşmış kulak memeleri-iletken işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 128980 | E | validated | |
| ICD-10 | H90.0 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007504 | E | validated | |
| UMLS | C4302507 | 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 | 2 families | Worldwide | Family(ies) | Validated | 5657116[PMID]_5428055[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5657116[PMID]_5428055[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2405
- This record as JSON: /data/d/2405.json