Acro-renal-ocular syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OKIHIRO SYNDROME
DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
ACRORENOOCULAR SYNDROME
DR SYNDROME
DRRS
Number of Symptoms 94
OrphanetNr: 959
OMIM Id: 607323
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
2
 (HPO:0100542) Abnormal localization of kidney Very frequent [Orphanet] 64 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0000089) Renal hypoplasia 78 / 7739
5
 (HPO:0000104) Renal agenesis 68 / 7739
6
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
7
 (HPO:0004736) Crossed fused renal ectopia 5 / 7739
8
 (HPO:0000077) Abnormality of the kidney 73 / 7739
9
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
10
 (HPO:0000085) Horseshoe kidney 39 / 7739
11
 (HPO:0004712) Renal malrotation 6 / 7739
12
 (HPO:0000324) Facial asymmetry 57 / 7739
13
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
14
 (HPO:0000568) Microphthalmia 183 / 7739
15
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
16
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
17
 (HPO:0000452) Choanal stenosis 23 / 7739
18
 (HPO:0000453) Choanal atresia 76 / 7739
19
 (HPO:0010628) Facial palsy 146 / 7739
20
 (HPO:0000661) Palpebral fissure narrowing on adduction 4 / 7739
21
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
22
 (HPO:0000487) Congenital strabismus 4 / 7739
23
 (HPO:0000619) Impaired convergence 4 / 7739
24
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
25
 (HPO:0000634) Impaired ocular abduction 4 / 7739
26
 (HPO:0009921) Duane anomaly 9 / 7739
27
 (HPO:0000480) Retinal coloboma 16 / 7739
28
 (HPO:0000542) Impaired ocular adduction 4 / 7739
29
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
30
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
31
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
32
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
33
 (HPO:0000588) Optic nerve coloboma Frequent [Orphanet] 27 / 7739
34
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
35
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
36
 (HPO:0007766) Optic disc hypoplasia 7 / 7739
37
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
38
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
39
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
40
 (HPO:0008588) Slit-like opening of the exterior auditory meatus 2 / 7739
41
 (HPO:0000356) Abnormality of the outer ear 85 / 7739
42
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
43
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
44
 (HPO:0003298) Spina bifida occulta 67 / 7739
45
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
46
 (HPO:0008998) Pectoralis hypoplasia 2 / 7739
47
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
48
 (HPO:0005792) Short humerus 34 / 7739
49
 (HPO:0100258) Preaxial polydactyly 39 / 7739
50
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
51
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
52
 (HPO:0003063) Abnormality of the humerus Occasional [Orphanet] 36 / 7739
53
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
54
 (HPO:0010109) Short hallux Frequent [Orphanet] 27 / 7739
55
 (HPO:0009016) Upper limb muscle hypoplasia 2 / 7739
56
 (HPO:0009611) Bifid distal phalanx of the thumb Frequent [Orphanet] 15 / 7739
57
 (HPO:0009486) Radial deviation of the hand Frequent [Orphanet] 13 / 7739
58
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
59
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
60
 (HPO:0009777) Absent thumb 31 / 7739
61
 (HPO:0009658) Aplasia/Hypoplasia of the phalanges of the thumb 4 / 7739
62
 (HPO:0001763) Pes planus 176 / 7739
63
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
64
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
65
 (HPO:0003974) Absent radius 26 / 7739
66
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
67
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
68
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
69
 (HPO:0001159) Syndactyly 140 / 7739
70
 (HPO:0001245) Small thenar eminence 10 / 7739
71
 (HPO:0009778) Short thumb 50 / 7739
72
 (HPO:0002650) Scoliosis 705 / 7739
73
 (HPO:0010048) Aplasia of metacarpal bones 6 / 7739
74
 (HPO:0002025) Anal stenosis 23 / 7739
75
 (HPO:0002023) Anal atresia 135 / 7739
76
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
77
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
78
 (HPO:0001631) Atria septal defect 274 / 7739
79
 (HPO:0001629) Ventricular septal defect 316 / 7739
80
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
81
 (OMIM) Thenar eminence hypoplasia 2 / 7739
82
 (OMIM) Hypertelorism, mild 11 / 7739
83
 (OMIM) Gastrointestinal anomalies (less common) 2 / 7739
84
 (OMIM) Abnormally placed kidney (dystopic) 2 / 7739
85
 (OMIM) Pelvicalyceal dilatation 3 / 7739
86
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
87
 (OMIM) Epicanthal folds, mild 3 / 7739
88
 (OMIM) Radial ray abnormalities, highly variable 2 / 7739
89
 (OMIM) Optic disc dysplasia 3 / 7739
90
 (OMIM) Club hand 3 / 7739
91
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739
92
 (HPO:0005725) Nonopposable triphalangeal thumb 4 / 7739
93
 (HPO:0005707) Bilateral triphalangeal thumbs 5 / 7739
94
 (HPO:0005866) Opposable triphalangeal thumb 5 / 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 ...