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Disease Profile
Toriello-Carey syndrome
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
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 andcleft 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]
- low muscle tone (
hypotonia ) - abnormal or absent corpus callosum
- heart anomalies (usually atrial and/or ventricular septal defects, or a patent ductus arteriosus)
- minor genital anomalies in males
- short neck
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 |
0001274 | |
Anteriorly placed anus | 0001545 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
0000007 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Short fingers or toes
|
0001156 | |
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 |
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 |
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
Treatment
Related diseases
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.
|
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
-
National Organization of Disorders of the Corpus Callosum
PMB 363
18032-C Lemon Drive
Yorba Linda, CA 92886
Telephone: +1-714-747-0063
Fax: +1-714-693-0808
E-mail: [email protected]
Website: https://nodcc.org/
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
- Toriello H. Toriello-Carey syndrome. Orphanet. August, 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338.
- 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.
- 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.
- 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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