Duane retraction syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DURS
DRS
Duane syndrome
Stilling-Turk-Duane syndrome
Number of Symptoms 39
OrphanetNr: 233
OMIM Id: 126800
604356
ICD-10: H50.8
UMLs: C0013261
MeSH: D004370
MedDRA: 10013799
Snomed: 60318001

Prevalence, inheritance and age of onset:

Prevalence: 10 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cranial nerve and nuclear aplasia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
2
 (HPO:0000661) Palpebral fissure narrowing on adduction 4 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
4
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
5
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
6
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
7
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
8
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
9
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
10
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
11
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
12
 (HPO:0000619) Impaired convergence 4 / 7739
13
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
14
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
15
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
16
 (HPO:0009921) Duane anomaly 9 / 7739
17
 (HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
18
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
19
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
20
 (HPO:0001100) Heterochromia iridis Occasional [Orphanet] 31 / 7739
21
 (HPO:0000487) Congenital strabismus 4 / 7739
22
 (HPO:0000634) Impaired ocular abduction 4 / 7739
23
 (HPO:0000542) Impaired ocular adduction 4 / 7739
24
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
25
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
26
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
27
 (HPO:0000356) Abnormality of the outer ear Occasional [Orphanet] 85 / 7739
28
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
29
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
30
 (HPO:0001332) Dystonia Occasional [Orphanet] 197 / 7739
31
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
32
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
33
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
34
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
35
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
36
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: