MCID: CRP028
MIFTS: 29

Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

MalaCards integrated aliases for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence:

Name: Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 56 71
Toriello-Carey Syndrome 56 52 58
Corpus Callosum Agenesis-Blepharophimosis-Robin Sequence Syndrome 52 58
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 52
Corpus Callosum Agenesis Facial Anomalies Robin Sequence 52

Characteristics:

Orphanet epidemiological data:

58
toriello-carey syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
multiple congenital anomalies
features are highly variable
some features not found in all patients


HPO:

31
corpus callosum, agenesis of, with facial anomalies and robin sequence:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

OMIM : 56 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 affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003). In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing. (217980)

MalaCards based summary : Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence, also known as toriello-carey syndrome, is related to telecanthus and isolated pierre robin sequence. An important gene associated with Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence is DDX3X (DEAD-Box Helicase 3 X-Linked). Affiliated tissues include heart, brain and testes, and related phenotypes are hypertelorism and short neck

NIH Rare Diseases : 52 Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features , brain abnormalities, Pierre Robin sequence , swallowing difficulties, heart defects, low muscle tone (hypotonia ), and moderate to severe intellectual disability . The genetic cause is not fully understood, but there is evidence it may be caused by mutations in one or more unidentified genes , or by a chromosome abnormality . When it is not due to a chromosome abnormality, inheritance is thought to be autosomal recessive . Treatment focuses on the specific signs and symptoms in each person.

Related Diseases for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Diseases related to Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 telecanthus 10.9
2 isolated pierre robin sequence 10.8
3 hypotonia 10.8
4 pierre robin syndrome 10.7
5 cleft palate, isolated 10.6
6 hypertelorism 10.6
7 heart septal defect 10.6
8 corpus callosum, agenesis of 10.5
9 brachydactyly 10.5
10 ventricular septal defect 10.5
11 atrial heart septal defect 10.5
12 cleft soft palate 10.3
13 strabismus 10.3
14 endocardial fibroelastosis 10.3
15 kaufman oculocerebrofacial syndrome 10.3
16 tracheobronchial stenosis, congenital 10.3
17 patent ductus arteriosus 1 10.3
18 alacrima, achalasia, and mental retardation syndrome 10.3
19 hypospadias 10.3
20 hydrocephalus 10.3
21 respiratory failure 10.3
22 pyloric stenosis 10.3
23 diarrhea 10.3
24 tracheal stenosis 10.3
25 pulmonary immaturity 10.3
26 ileus 10.3
27 mechanical strabismus 10.3
28 satb2-associated syndrome 10.3

Graphical network of the top 20 diseases related to Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence:



Diseases related to Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence

Symptoms & Phenotypes for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Human phenotypes related to Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 short neck 31 HP:0000470
3 agenesis of corpus callosum 31 HP:0001274
4 clinodactyly 31 HP:0030084
5 intellectual disability 31 HP:0001249
6 ptosis 31 HP:0000508
7 muscular hypotonia 31 HP:0001252
8 depressed nasal bridge 31 HP:0005280
9 short nose 31 HP:0003196
10 brachydactyly 31 HP:0001156
11 cryptorchidism 31 HP:0000028
12 micrognathia 31 HP:0000347
13 microcephaly 31 HP:0000252
14 anteverted nares 31 HP:0000463
15 full cheeks 31 HP:0000293
16 cleft palate 31 HP:0000175
17 generalized hypotonia 31 HP:0001290
18 hernia 31 HP:0100790
19 narrow chest 31 HP:0000774
20 patent ductus arteriosus 31 HP:0001643
21 respiratory distress 31 HP:0002098
22 short palm 31 HP:0004279
23 cardiomyopathy 31 HP:0001638
24 abnormality of the pinna 31 HP:0000377
25 neonatal respiratory distress 31 HP:0002643
26 telecanthus 31 HP:0000506
27 cerebellar hypoplasia 31 HP:0001321
28 hypospadias 31 HP:0000047
29 tracheal stenosis 31 HP:0002777
30 downturned corners of mouth 31 HP:0002714
31 abnormal cardiac septum morphology 31 HP:0001671
32 blepharophimosis 31 HP:0000581
33 wide anterior fontanel 31 HP:0000260
34 tracheomalacia 31 HP:0002779
35 anteriorly placed anus 31 HP:0001545
36 proximal placement of thumb 31 HP:0009623
37 abnormality of cardiovascular system morphology 31 HP:0030680
38 short palpebral fissure 31 HP:0012745
39 pierre-robin sequence 31 HP:0000201
40 abnormality of the larynx 31 HP:0001600
41 syndactyly 31 HP:0001159
42 laryngeal hypoplasia 31 HP:0008749
43 redundant neck skin 31 HP:0005989

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
short palpebral fissures

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
proximally placed thumbs

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly

Abdomen External Features:
hernia

Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Central Nervous System:
cerebellar hypoplasia
hypotonia
mental retardation
hypoplasia or agenesis of the corpus callosum

Respiratory Airways:
tracheomalacia
tracheal stenosis, congenital

Respiratory Larynx:
laryngeal hypoplasia

Skeletal Skull:
large anterior fontanel

Respiratory:
respiratory distress, neonatal

Head And Neck Neck:
short neck
excess skin of the neck

Head And Neck Nose:
depressed nasal bridge
small nose

Head And Neck Face:
micrognathia
full cheeks
robin sequence

Head And Neck Mouth:
cleft palate
downturned corners of mouth

Chest External Features:
narrow chest

Cardiovascular Heart:
cardiomyopathy
septal defects
cardiac defects

Genitourinary External Genitalia Male:
hypospadias
genital hypoplasia

Abdomen Gastrointestinal:
anteriorly placed anus
anal abnormalities

Head And Neck Ears:
dysplastic ears
hearing loss, sensorineural and conductive

Growth Other:
poor growth, postnatal

Chest Ribs Sternum Clavicles And Scapulae:
abnormal rib number

Clinical features from OMIM:

217980

Drugs & Therapeutics for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Search Clinical Trials , NIH Clinical Center for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence

Genetic Tests for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Anatomical Context for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

MalaCards organs/tissues related to Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence:

40
Heart, Brain, Testes, Skin

Publications for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Articles related to Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence:

(show all 32)
# Title Authors PMID Year
1
Update on the Toriello-Carey syndrome. 61 52 56
27510950 2016
2
A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. 61 52 56
23873869 2013
3
Toriello-Carey syndrome: delineation and review. 61 52 56
14556252 2003
4
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. 61 56
24615390 2014
5
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity. 61 56
21108391 2010
6
Toriello-Carey syndrome in a Turkish newborn. 61 56
19852430 2009
7
Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus. 61 56
12884435 2003
8
Further delineation of the Toriello-Carey syndrome: a report of two siblings. 61 56
12494442 2003
9
Toriello-Carey syndrome: an additional case and summary of previously reported cases. 61 56
11310996 2001
10
Toriello-Carey syndrome: case report with additional findings. 61 56
11169567 2001
11
Two sisters with Toriello-Carey syndrome. 61 56
10564882 1999
12
Toriello-Carey syndrome with endocardial fibroelastosis. 61 56
10564885 1999
13
Toriello-Carey syndrome: evidence for X-linked inheritance. 61 56
8923938 1996
14
New case of Toriello-Carey syndrome. 61 56
1536182 1992
15
Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? 56
3223497 1988
16
Expanding the phenome and variome of skeletal dysplasia. 61
29620724 2018
17
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review. 61
29456478 2017
18
Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. 61
28447379 2017
19
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 61
28371085 2017
20
A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q. 61
27748028 2017
21
Dental and dentofacial problems in a female child with Toriello-Carey -syndrome: changes in 3 years. 61
27159668 2016
22
Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient. 61
22496049 2012
23
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. 61
21567913 2011
24
Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report. 61
21371068 2011
25
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 61
19170718 2009
26
Toriello-Carey syndrome phenotype and chromosome anomalies. 61
18074373 2008
27
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
28
Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22). 61
15214022 2004
29
Prenatal ultrasound diagnosis of Toriello-Carey syndrome. 61
12478630 2002
30
[Toriello-Carey syndrome]. 61
11528996 2001
31
Toriello-Carey syndrome. 61
9188677 1997
32
Toriello-Carey syndrome: report of a new case. 61
7506967 1993

Variations for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Expression for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Search GEO for disease gene expression data for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence.

Pathways for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

GO Terms for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

Sources for Corpus Callosum, Agenesis of, with Facial Anomalies and Robin...

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