IVIC syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RADIAL RAY DEFECTS, HEARING IMPAIRMENT, EXTERNAL OPHTHALMOPLEGIA, AND THROMBOCYTOPENIA
OCULOOTORADIAL SYNDROME
OORS
Oculo-oto-radial syndrome
Number of Symptoms 35
OrphanetNr: 2307
OMIM Id: 147750
ICD-10: Q71.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000143) Rectovaginal fistula 18 / 7739
2
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
3
 (HPO:0000544) External ophthalmoplegia 40 / 7739
4
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
5
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
6
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
7
 (HPO:0009702) Carpal synostosis 26 / 7739
8
 (HPO:0010034) Short 1st metacarpal 19 / 7739
9
 (HPO:0009778) Short thumb 50 / 7739
10
 (HPO:0006064) Limited interphalangeal movement 1 / 7739
11
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
12
 (HPO:0005048) Synostosis of carpal bones Frequent [Orphanet] 39 / 7739
13
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
14
 (HPO:0009777) Absent thumb 31 / 7739
15
 (HPO:0002996) Limited elbow movement 16 / 7739
16
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
17
 (HPO:0001245) Small thenar eminence 10 / 7739
18
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
19
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
20
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
21
 (HPO:0006248) Limited wrist movement 2 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
23
 (HPO:0002566) Intestinal malrotation 89 / 7739
24
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
27
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
28
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
29
 (HPO:0001974) Leukocytosis Occasional [Orphanet] 33 / 7739
30
 (HPO:0008953) Pectoralis major hypoplasia 1 / 7739
31
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
 (HPO:0003812) Phenotypic variability 129 / 7739
33
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739
34
 (HPO:0030241) Hypoplasia of deltoid muscle 2 / 7739
35
 (OMIM) Mild thrombocytopenia 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Arias et al. (1980) described the IVIC syndrome in 19 living descendants of a Caucasian family that migrated to Venezuela from the Canary Islands in the early 1800s. The disorder could be traced over 6 generations with complete ...
Molecular genetics OMIM In affected members of the original Venezuelan family reported by Arias et al. (1980), Paradisi and Arias (2007) identified a heterozygous mutation in the SALL4 gene (607343.0013). The authors emphasized the intrafamilial phenotypic variability of the same mutation. ...