Toriello-Carey syndrome

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.



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Narrow down the case reports



Total: 17 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 19170718
 Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E.
Clin Genet. 2009;75(3):259-64.
Full cheeks Micrognathia Telecanthus
SATB2
Acrocallosal Syndrome Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 2 Congenital Heart Defects Craniofacial Abnormalities Face Genes, X-Linked Homo sapiens Infant, Newborn Intellectual Disability Male Matrix Attachment Region Binding Proteins Syndrome
1
(63.5%)		 8923938
 Toriello-Carey syndrome: evidence for X-linked inheritance.
Czarnecki P, Lacombe D, Weiss L.
Am J Med Genet. 1996;65(4):291-4.
Micrognathia Telecanthus
Brain Females Growth Disorders Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Syndrome X Chromosome
3
(62.6%)		 19852430
 Toriello-Carey syndrome in a Turkish newborn.
Uras N, Sandal G, Oguz S, Aydemir O, Erdeve O, Dilmen U.
Genet Couns. 2009;20(3):243-7.
Retrognathia Anteverted nares Telecanthus Brachydactyly
Acrocallosal Syndrome Adult Craniofacial Abnormalities Echoencephalography Homo sapiens Infant, Newborn Intellectual Disability Male Syndrome
3
(62.6%)		 1536182
 New case of Toriello-Carey syndrome.
Lacombe D, Creusot G, Battin J.
Am J Med Genet. 1992;42(3):374-6.
Retrognathia Anteverted nares Telecanthus Brachydactyly
Face Homo sapiens Infant, Newborn Male Phenotype Syndrome
5
(32.3%)		 23873869
 A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.
Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
Am J Med Genet A. 2013;161A(9):2291-3.
Pierre-Robin sequence Telecanthus
Brain Congenital Heart Defects Craniofacial Abnormalities Facies Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Magnetic Resonance Imaging Male Phenotype Pierre Robin Syndrome Stenosis Syndrome Trachea Urogenital Abnormalities X-Ray Computed Tomography
5
(32.3%)		 21567913
 Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.
Said E, Cuschieri A, Vermeesch J, Fryns JP.
Am J Med Genet A. 2011;155A(6):1390-2.
Pierre-Robin sequence Telecanthus
Chromosome Deletion Chromosomes, Human, Pair 22 Cleft Palate Congenital Heart Defects Females Genes, Recessive Homo sapiens Infant Syndrome
5
(32.3%)		 12884435
 Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus.
Kataoka TR, Ito A, Nakabori T, Koma Y, Nakai H, Kamata S, Kitamura Y.
Am J Med Genet A. 2003;120A(4):537-41.
Pierre-Robin sequence Telecanthus
Fatal Outcome Females Homo sapiens Ileus Infant Intestines, Small Lung Magnetic Resonance Imaging Male Respiratory Insufficiency Syndrome
5
(32.3%)		 12494442
 Further delineation of the Toriello-Carey syndrome: a report of two siblings.
Barisic I, Peter B, Mikecin L.
Am J Med Genet A. 2003;116A(2):188-91.
Pierre-Robin sequence Telecanthus
Congenital Heart Defects Face Fatal Outcome Females Homo sapiens Infant Infant, Newborn Intellectual Disability Larynx Male Sibling Syndrome
5
(32.3%)		 11169567
 Toriello-Carey syndrome: case report with additional findings.
Aftimos S, McGaughran J.
Am J Med Genet. 2001;98(3):273-6.
Pierre-Robin sequence Telecanthus
Blepharophimosis Congenital Foot Deformity Congenital Heart Defects Fatal Outcome Females Homo sapiens Infant, Newborn Syndrome
10
(30.8%)		 21371068
 Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report.
Maretti MB, Haddad AS, Ferreira MC, Guare Rde O, Alonso LG.
Spec Care Dentist. 2011;31(2):68-72.
Hypospadias Anteverted nares Telecanthus
Acrocallosal Syndrome Craniofacial Abnormalities Dental Care for Disabled Dental Hygiene Growth Disorders Homo sapiens Intellectual Disability Male Malocclusion Open Bite Patient Care Planning Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0000506 Telecanthus 4
HP:0000201 Pierre-Robin sequence 3
HP:0000463 Anteverted nares 3
HP:0012745 Short palpebral fissure 3
HP:0000278 Retrognathia 1
HP:0001156 Brachydactyly 1
HP:0001510 Growth delay 1
HP:0001638 Cardiomyopathy 1
HP:0002878 Respiratory failure 1
HP:0010676 Mechanical ileus 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
DDX3X DEAD-box helicase 3 X-linked 1654