ORPHA:233
Duane retraction syndrome
Synonyms: DRS · DURS · Duane syndrome · Stilling-Turk-Duane syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Duane retraction syndrome | DRS · DURS · Duane syndrome · Stilling-Turk-Duane syndrome |
| fr | Syndrome de Duane | DRS · DURS · Syndrome de Stilling-Turk-Duane · Syndrome de rétraction de Duane |
| de | Duane-Retraktionssyndrom | DRS · DURS · Duane-Syndrom · Stilling-Turk-Duane-Syndrom |
| es | Síndrome de retracción de Duane | DRS · DURS · Síndrome de Duane · Síndrome de Stilling-Turk-Duane |
| it | Sindrome della retrazione di Duane | DRS · DURS · Sindrome di Duane · Sindrome di Stilling-Turk-Duane |
| nl | Duane-retractiesyndroom | DRS · DURS · Syndroom van Duane · Syndroom van Stilling-Turk-Duane |
| pt | Síndrome de retração Duane | |
| pl | Zespół retrakcji Duane'a | DRS · DURS · Zespół Duane'a · Zespół Stillinga, Turka i Duane'a |
| cs | Duaneův retrakční syndrom | DRS · DURS · Duanův syndrom · Stillingův-Turkův-Duanův syndrom · Duanův retrakční syndrom · Stilling-Turk-Duanův syndrom |
| uk | Синдром ретракції Дуейна | DRS · Синдром Дуейна · DURS · Синдром Стіллінга-Турека-Дуена |
| zh | 眼球后退综合征 | Stilling-Turk-Duane综合征 |
| tr | Duane retraksiyon sendromu | DRS · DURS · Duane sendromu · Stilling-Turk-Duane sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 126800 | E | validated | |
| OMIM | 604356 | BTNT | validated | |
| OMIM | 616219 | ND | validated | |
| OMIM | 617041 | BTNT | validated | |
| ICD-10 | H50.8 | NTBT | inclusion | validated |
| ICD-11 | 9C82.2 | NTBT | index | validated |
| MONDO | 0007473 | E | validated | |
| MeSH | D004370 | E | validated | |
| UMLS | C0013261 | E | validated | |
| GARD | 6288 | E | validated | |
| MedDRA | 10013799 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98518Congenital cranial dysinnervation disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; 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
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAFB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6408 | ENSG00000204103 | 608968 | 20q12 | MAF bZIP transcription factor B | 27181683[PMID] |
| CHN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1943 | ENSG00000128656 | 118423 | 2q31.1 | chimerin 1 | 18653847[PMID] |
| SALL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:15924 | ENSG00000101115 | 607343 | 20q13.2 | spalt like transcription factor 4 | 23687435[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Not yet validated | ISBN:3642022014[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
62 annotations · validated 2023-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0009921 | Duane anomaly | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0005640 | Abnormal vertebral segmentation and fusion | |
| HP:0000463 | Anteverted nares | |
| HP:0000581 | Blepharophimosis | |
| HP:0000490 | Deeply set eye | |
| HP:0000634 | Impaired ocular abduction | |
| HP:0000542 | Impaired ocular adduction | |
| HP:0002162 | Low posterior hairline | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000615 | Abnormal pupil morphology | |
| HP:0003974 | Absent radius | |
| HP:0000646 | Amblyopia | |
| HP:0000526 | Aniridia | |
| HP:0012732 | Anorectal anomaly | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000643 | Blepharospasm | |
| HP:0001156 | Brachydactyly | |
| HP:0012385 | Camptodactyly | |
| HP:0007818 | Central heterochromia | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000175 | Cleft palate | |
| HP:0031705 | Compensatory head posture | |
| HP:0000086 | Ectopic kidney | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000324 | Facial asymmetry | |
| HP:0001263 | Global developmental delay | |
| HP:0100274 | Gustatory lacrimation | |
| HP:0000365 | Hearing impairment | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0007990 | Hypoplastic iris stroma | |
| HP:0000612 | Iris coloboma | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0025186 | Marcus Gunn jaw winking synkinesis | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000347 | Micrognathia | |
| HP:0011386 | Narrow internal auditory canal | |
| HP:0000639 | Nystagmus | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0011365 | Patchy hypopigmentation of hair | |
| HP:0001357 | Plagiocephaly | |
| HP:0000384 | Preauricular skin tag | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000465 | Webbed neck | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301369[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/233
- This record as JSON: /data/d/233.json