Toriello-Carey syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TORIELLO-CAREY SYNDROME
Corpus callosum agenesis - blepharophimosis - Robin sequence
Number of Symptoms 65
OrphanetNr: 3338
OMIM Id: 217980
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 60 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0000162) Glossoptosis Occasional [Orphanet] 26 / 7739
5
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
6
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
7
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
10
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
11
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
12
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
13
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
14
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
15
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
16
 (HPO:0200102) Sparse or absent eyelashes Occasional [Orphanet] 64 / 7739
17
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
18
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
19
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
20
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
21
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
22
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
23
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
24
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
25
 (HPO:0000377) Abnormality of the pinna 111 / 7739
26
 (HPO:0011262) Crimped helix Occasional [Orphanet] 12 / 7739
27
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
28
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
29
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
30
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
31
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
32
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
33
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
34
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
35
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
36
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
37
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
38
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
39
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
40
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
41
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
42
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
43
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
44
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
45
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
46
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
47
 (HPO:0004306) Abnormality of the endocardium Frequent [Orphanet] 24 / 7739
48
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
49
 (HPO:0001602) Laryngeal stenosis Occasional [Orphanet] 21 / 7739
50
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 35 / 7739
51
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
52
 (HPO:0001600) Abnormality of the larynx 15 / 7739
53
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
54
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
55
 (HPO:0001324) Muscle weakness 859 / 7739
56
 (HPO:0010547) Muscle flaccidity 466 / 7739
57
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
58
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
59
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
60
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
61
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
62
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
63
 (HPO:0012745) Short palpebral fissure 47 / 7739
64
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
65
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in ...
Clinical Description OMIM Toriello and Carey (1988) described findings in 4 children, 3 of them sibs, who appeared to have a previously undescribed multiple congenital anomaly (MCA) syndrome. The manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small ...