Deafness-ear malformation-facial palsy syndrome
Synonyms: Hearing loss-ear malformation-facial palsy syndrome · Sellars-Beighton syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-ear malformation-facial palsy syndrome | Hearing loss-ear malformation-facial palsy syndrome · Sellars-Beighton syndrome |
| fr | Syndrome de surdité-oreille anormale-paralysie faciale | Syndrome de Sellars-Beighton |
| de | Schwerhörigkeit-Ohrfehlbildung-Fazialisparese-Syndrom | |
| es | Síndrome de sordera-malformaciones del oído-parálisis facial | Síndrome de Sellars-Beighton · Síndrome de hipoacusia-malformaciones del oído-parálisis facial |
| it | Sordità - anomalie delle orecchie - paralisi facciale | Sindrome di Sellars-Beighton |
| nl | Doofheid - malformatie van oor - aangezichtsverlamming-syndroom | Gehoorverlies - malformatie van oor - aangezichtsverlamming-syndroom · Syndroom van Sellars-Beighton |
| pt | Síndrome de surdez-malformação do ouvido-paralisia facial | Síndrome Sellars-Beighton · Síndrome de perda auditiva-malformação do ouvido-paralisia facial |
| pl | Głuchota - malformacja ucha- paraliż twarzy | Zespół Sellarsa i Beightona |
| cs | Syndrom zahrnující hluchotu, malformace ucha a obrnu obličeje | Sellarsův-Beightonův syndrom · Sellars-Beightonův syndrom |
| uk | Синдром глухоти-вушної деформації-лицевого паралічу | Синдром втрати слуху - деформації вуха - лицьового паралічу · Синдром Селларса-Бейтона |
| zh | 耳聋-耳畸形-面瘫综合征 | 听力丧失-耳畸形-面瘫综合征 |
| tr | Sağırlık-kulak malformasyonu-yüz felci sendromu | Sellars-Beighton sendromu · İşitme kaybı-kulak malformasyonu-fasiyal felç sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124490 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007421 | E | validated | |
| UMLS | C4274753 | E | validated | |
| GARD | 1684 | 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 | 4 cases | Worldwide | Case(s) | Validated | 6851230[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6851230[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0008628 | Abnormality of the stapes | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0010628 | Facial palsy | |
| HP:0009739 | Hypoplasia of the antihelix | |
| Frequent (79-30%) | ||
| HP:0000383 | Abnormality of periauricular region | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3232
- This record as JSON: /data/d/3232.json