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Disease Profile

Toriello-Carey syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

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]

Symptoms

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] 

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.

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

Cause

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]

Treatment

There is no specific treatment for people with Toriello-Carey syndrome. Management is based on the signs and symptoms present in each person.[1]

Organizations

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

    Learn more

    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.

      References

      1. Toriello H. Toriello-Carey syndrome. Orphanet. August, 2012; https://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.

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