National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Toriello-Carey syndrome


Other Names:
Corpus callosum agenesis facial anomalies Robin sequence; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome; Agenesis of corpus callosum with facial anomalies and Robin sequence
Categories:
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.[1] 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.[1][2] 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.[1]
Last updated: 2/16/2017
The specific features and severity associated with Toriello-Carey syndrome varies among affected people. In 2003, Toriello et al. published a review article in which they reported the features of 45 individuals with TCS. In that review, it was found that most children had normal weight, length, and head circumference at birth, but subsequently developed growth failure and microcephaly. Not all had neonatal problems, but those who did most commonly had respiratory distress or feeding and swallowing difficulties. All had some degree of developmental delay or intellectual disability.[2][3] 

Common facial features (present in more than half) in children with Toriello-Cary syndrome include:[2][3] 
  • telecanthus (increased distance between the inner corners of the eyes) or widely-spaced eyes coupled with short palpebral fissures
  • short/sparse eyelashes
  • short or small nose
  • variable combinations of micrognathia and cleft palate or highly-arched palate (with many children having Pierre Robin sequence)
  • full cheeks
  • abnormal ear shape or position
Additional features present in most children with Toriello-Carey syndrome include:[2][3] 
Last updated: 2/16/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 44 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormal cardiac septum morphology 0001671
Abnormality of cardiovascular system morphology 0030680
Abnormality of the larynx 0001600
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Agenesis of corpus callosum 0001274
Anteriorly placed anus 0001545
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Autosomal recessive inheritance 0000007
Blepharophimosis
Narrow opening between the eyelids
0000581
Brachydactyly
Short fingers or toes
0001156
Cardiomyopathy
Disease of the heart muscle
0001638
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ] 		0001321
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly
Permanent curving of the finger
0030084
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ] 		0002714
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] 		0000293
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hernia 0100790
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypospadias 0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Laryngeal hypoplasia 0008749
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] 		0002643
Patent ductus arteriosus 0001643
Pierre-Robin sequence 0000201
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Ptosis
Drooping upper eyelid
0000508
Redundant neck skin
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ] 		0005989
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short palm 0004279
Short palpebral fissure
Short opening between the eyelids
0012745
Syndactyly
Webbed fingers or toes
0001159
Telecanthus
Corners of eye widely separated
0000506
Tracheal stenosis
Narrowing of windpipe
0002777
Tracheomalacia
Floppy windpipe
0002779
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
Showing of 44 |
Last updated: 7/1/2020
The cause of Toriello-Carey syndrome (TCS) is not fully understood. There is evidence that the genetic cause may differ among people with this condition.[1][2] It is estimated that at least 20% of people with a clinical diagnosis of TCS have a chromosome abnormality that is responsible for their signs and symptoms. No basis for the non-chromosomal cases has been found. As a result, there has been an ongoing effort to identify specific genes that might cause TCS in these cases.[2]
Last updated: 2/16/2017
There is no specific treatment for people with Toriello-Carey syndrome. Management is based on the signs and symptoms present in each person.[1]
Last updated: 2/16/2017
Toriello-Carey syndrome (TCS) is associated with a decreased life span.[1] Respiratory failure, one of the most serious problems in people with TCS (particularly during the neonatal period), can lead to death. Other anomalies in people with TCS that have been associated with mortality include cardiac (heart) defects, laryngeal anomalies, and tracheal anomalies. Congenital tracheal stenosis is a life-threatening condition with high mortality. Even if surgery is successful, several serious complications can result.[4] We are not aware of estimates of life expectancy. In a review published by Toriello et al in 2003, the oldest patient at the time of the review was a 14 year old female.[3]
Last updated: 2/16/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
There are few conditions which include the combination of abnormalities of the corpus callosum and Pierre-Robin sequence. Two such conditions are Aicardi syndrome (in which Robin anomaly is a rare occurrence) and TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Pediatric Patients With Metabolic or Other Genetic Disorders which may be of interest to you.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Toriello-Carey syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My daughter has been diagnosed with Toriello-Carey syndrome.  I would like to know as much as possible about this condition, including the associated prognosis. See answer


  1. Toriello H. Toriello-Carey syndrome. Orphanet. August, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338.
  2. Toriello HV, Colley C, Bamshad M. Update on the Toriello-Carey syndrome. Am J Med Genet A. October, 2016; 170(10):2551-2558. https://www.ncbi.nlm.nih.gov/pubmed/27510950.
  3. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, et al. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. November 15, 2003; 123A(1):84-90. https://www.ncbi.nlm.nih.gov/pubmed/14556252.
  4. Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N. A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. Am J Med Genet A. September, 2013; 161A(9):2291-2293. https://www.ncbi.nlm.nih.gov/pubmed/23873869.