Duane retraction syndrome with congenital deafness
Synonyms: DRS with deafness · DRS with hearing loss · DURS with deafness · DURS with hearing loss · Duane retraction syndrome with congenital hearing loss
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Duane retraction syndrome with congenital deafness | DRS with deafness · DRS with hearing loss · DURS with deafness · DURS with hearing loss · Duane retraction syndrome with congenital hearing loss |
| fr | Syndrome de Duane avec surdité congénitale | DRS avec surdité |
| de | Duane-Retraktionssyndrom mit kongenitaler Schwerhörigkeit | DRS mit Schwerhörigkeit · DURS mit Schwerhörigkeit |
| es | Síndrome de retracción de Duane con sordera congénita | DRS con hipoacusia · DRS con sordera · DURS con hipoacusia · DURS con sordera · Síndrome de retracción de Duane con hipoacusia congénita |
| it | Sindrome della retrazione di Duane con sordità congenita | |
| nl | Duane-retractiesyndroom met congenitale doofheid | DRS met doofheid · DURS met doofheid |
| pt | Síndrome de retracção Duane com surdez congénita | |
| pl | Zespół retrakcyjny Duane'a z wrodzonym niedosłuchem | Zespół retrakcji Duane'a z wrodzoną utratą słuchu |
| cs | Duaneův retrakční syndrom s vrozenou hluchotou | DRS s hluchotou · DURS s hluchotou |
| uk | Синдром ретракції Дуана з вродженою глухотою | DRS з глухотою · DRS зі зниженим слухом · Синдром ретракції Дуана з вродженою втратою слуху · DURS з глухотою · DURS зі зниженим слухом |
| zh | Duane眼球后退综合征伴先天性耳聋 | Duane眼球后退综合征伴先天性听力损失 |
| tr | Doğumsal sağırlık ile seyreden Duane retraksiyon sendromu | Sağırlık ile seyreden DRS · Sağırlık ile seyreden DURS · İşitme kaybı ile seyreden DRS · İşitme kaybı ile seyreden DURS · Doğumsal işitme kaybı ile seyreden Duane retraksiyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617041 | NTBT | validated | |
| ICD-10 | H50.8 | NTBT | attributed | validated |
| ICD-11 | 9C82.2 | NTBT | attributed | validated |
| MONDO | 0035337 | E | validated | |
| UMLS | C5680193 | 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 (5):
- ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
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 |
|---|---|---|---|---|---|---|---|---|
| MAFB | Disease-causing germline mutation(s) in | Assessed | HGNC:6408 | ENSG00000204103 | 608968 | 20q12 | MAF bZIP transcription factor B | 27181683[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27181683[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27181683[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/529574
- This record as JSON: /data/d/529574.json