Okihiro syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OKIHIRO SYNDROME
DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
ACRORENOOCULAR SYNDROME
DR SYNDROME
DRRS
Duane-radial ray syndrome
Number of Symptoms 70
OrphanetNr: 93293
OMIM Id: 607323
ICD-10: Q87.8
UMLs: C1623209
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
2
 (HPO:0004736) Crossed fused renal ectopia 5 / 7739
3
 (HPO:0000085) Horseshoe kidney 39 / 7739
4
 (HPO:0000126) Hydronephrosis 119 / 7739
5
 (HPO:0000089) Renal hypoplasia 78 / 7739
6
 (HPO:0000104) Renal agenesis 68 / 7739
7
 (HPO:0004712) Renal malrotation 6 / 7739
8
 (HPO:0000077) Abnormality of the kidney 73 / 7739
9
 (HPO:0000661) Palpebral fissure narrowing on adduction 4 / 7739
10
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
11
 (HPO:0000568) Microphthalmia 183 / 7739
12
 (HPO:0000453) Choanal atresia 76 / 7739
13
 (HPO:0010628) Facial palsy 146 / 7739
14
 (HPO:0000324) Facial asymmetry 57 / 7739
15
 (HPO:0000286) Epicanthus 371 / 7739
16
 (HPO:0000316) Hypertelorism 644 / 7739
17
 (HPO:0000452) Choanal stenosis 23 / 7739
18
 (HPO:0000487) Congenital strabismus 4 / 7739
19
 (HPO:0000612) Iris coloboma 116 / 7739
20
 (HPO:0000518) Cataract 454 / 7739
21
 (HPO:0000634) Impaired ocular abduction 4 / 7739
22
 (HPO:0000619) Impaired convergence 4 / 7739
23
 (HPO:0000542) Impaired ocular adduction 4 / 7739
24
 (HPO:0000480) Retinal coloboma 16 / 7739
25
 (HPO:0007766) Optic disc hypoplasia 7 / 7739
26
 (HPO:0009921) Duane anomaly 9 / 7739
27
 (HPO:0008588) Slit-like opening of the exterior auditory meatus Rare [HPO:probinson] 12843316 IBIS 2 / 7739
28
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
29
 (HPO:0000356) Abnormality of the outer ear 85 / 7739
30
 (HPO:0002251) Aganglionic megacolon 78 / 7739
31
 (HPO:0100258) Preaxial polydactyly 39 / 7739
32
 (HPO:0001159) Syndactyly 140 / 7739
33
 (HPO:0010048) Aplasia of metacarpal bones 6 / 7739
34
 (HPO:0005792) Short humerus 34 / 7739
35
 (HPO:0003298) Spina bifida occulta 67 / 7739
36
 (HPO:0001245) Small thenar eminence 10 / 7739
37
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
38
 (HPO:0009016) Upper limb muscle hypoplasia 2 / 7739
39
 (HPO:0009658) Aplasia/Hypoplasia of the phalanges of the thumb 4 / 7739
40
 (HPO:0001763) Pes planus 176 / 7739
41
 (HPO:0009778) Short thumb 50 / 7739
42
 (HPO:0002650) Scoliosis 705 / 7739
43
 (HPO:0009486) Radial deviation of the hand 13 / 7739
44
 (HPO:0009777) Absent thumb 31 / 7739
45
 (HPO:0008998) Pectoralis hypoplasia 2 / 7739
46
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
47
 (HPO:0001852) Sandal gap 63 / 7739
48
 (HPO:0003974) Absent radius 26 / 7739
49
 (HPO:0009601) Aplasia/Hypoplasia of the thumb 80 / 7739
50
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
51
 (HPO:0002025) Anal stenosis 23 / 7739
52
 (HPO:0002023) Anal atresia 135 / 7739
53
 (HPO:0001631) Atria septal defect 274 / 7739
54
 (HPO:0001629) Ventricular septal defect 316 / 7739
55
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
56
 (HPO:0005707) Bilateral triphalangeal thumbs 5 / 7739
57
 (OMIM) Club hand 3 / 7739
58
 (OMIM) Hypertelorism, mild 11 / 7739
59
 (HPO:0005866) Opposable triphalangeal thumb 5 / 7739
60
 (OMIM) Optic disc dysplasia 3 / 7739
61
 (OMIM) Gastrointestinal anomalies (less common) 2 / 7739
62
 (OMIM) Abnormally placed kidney (dystopic) 2 / 7739
63
 (OMIM) Radial ray abnormalities, highly variable 2 / 7739
64
 (OMIM) Pelvicalyceal dilatation 3 / 7739
65
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
66
 (OMIM) Epicanthal folds, mild 3 / 7739
67
 (HPO:0005725) Nonopposable triphalangeal thumb 4 / 7739
68
 (HPO:0003812) Phenotypic variability 129 / 7739
69
 (HPO:0001199) Triphalangeal thumb 56 / 7739
70
 (OMIM) Thenar eminence hypoplasia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular ...
Clinical Description OMIM Ferrell et al. (1966) reported a family in which a father and 3 of his 5 children had radial defects in an autosomal dominant pattern of inheritance. The father and 1 child also had Duane anomaly, 1 child ...
Molecular genetics OMIM Based on the phenotypic overlap between some patients with Okihiro syndrome and those with Townes-Brocks syndrome (107480), Kohlhase et al. (2002) postulated that Okihiro syndrome might result from mutations in a member of the human SALL gene family ...