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Genetic and Rare Diseases Information Center (GARD)

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Toriello Carey syndrome


Other Names for this Disease

  • Corpus callosum agenesis facial anomalies Robin sequence
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Symptoms

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What symptoms are associated with Toriello-Carey syndrome?

In 2003, Toriello et al. published a review article in which they reported the findings of 45 individuals with Toriello-Carey syndrome. They found that although the signs and symptoms observed in individuals with Toriello-Carey syndrome vary from person to person, common findings (present in 50% or more of individuals) included craniofacial features (which include telecanthus/hypertelorism, short palpebral fissures, short/sparse eyelashes, small nose, full cheeks, thin lips with downturned corners of the mouth, cleft palate, micrognathia, and minor ear anomalies), short neck, postnatal growth failure, hypotonia, abnormal or absent corpus callosum, heart defects, minor genital anomalies in males, minor limb anomalies, and mental retardation. Rarer findings include eye abnormalities, kidney anomalies, skin abnormalities, and abnormalities of the long bones.[1]

Because some of the signs and symptoms present in individuals with Toriello-Carey syndrome may be similar to those observed in other conditions, and because some individuals previously reported as having Toriello-Carey syndrome were later found to have a different condition and not Toriello-Carey syndrome, Toriello et al. recommend that all individuals suspected of having Toriello-Carey syndrome (particularly those with additional or unusual findings) should have detailed chromosome analysis to rule out a microdeletion (loss of a very small piece of a chromosome) or microduplication (duplication of a very small piece of a chromosome) as the cause of the findings.[2]
Last updated: 8/1/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Toriello Carey syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aplasia/Hypoplasia of the corpus callosum 90%
Blepharophimosis 90%
Hypertelorism 90%
Micrognathia 90%
Short nose 90%
Telecanthus 90%
Abnormality of the cardiac septa 50%
Abnormality of the endocardium 50%
Abnormality of the fontanelles or cranial sutures 50%
Anteverted nares 50%
Brachydactyly syndrome 50%
Cleft palate 50%
Clinodactyly of the 5th finger 50%
Cryptorchidism 50%
Depressed nasal bridge 50%
Downturned corners of mouth 50%
Full cheeks 50%
Hearing impairment 50%
Muscular hypotonia 50%
Short stature 50%
Thickened nuchal skin fold 50%
Thin vermilion border 50%
Abnormality of the eyelashes 7.5%
Abnormality of the ribs 7.5%
Aganglionic megacolon 7.5%
Aplasia/Hypoplasia of the cerebellum 7.5%
Aplasia/Hypoplasia of the eyebrow 7.5%
Camptodactyly of finger 7.5%
Cerebral cortical atrophy 7.5%
Dandy-Walker malformation 7.5%
Displacement of the external urethral meatus 7.5%
Ectopic anus 7.5%
Glossoptosis 7.5%
Hypertrophic cardiomyopathy 7.5%
Hypoplasia of penis 7.5%
Intrauterine growth retardation 7.5%
Laryngomalacia 7.5%
Low-set, posteriorly rotated ears 7.5%
Patent ductus arteriosus 7.5%
Proximal placement of thumb 7.5%
Respiratory insufficiency 7.5%
Sandal gap 7.5%
Seizures 7.5%
Thickened helices 7.5%
Toe syndactyly 7.5%
Tracheal stenosis 7.5%
Umbilical hernia 7.5%
Vertebral segmentation defect 7.5%
Abnormality of the larynx -
Abnormality of the pinna -
Agenesis of corpus callosum -
Anteverted nares -
Autosomal recessive inheritance -
Blepharophimosis -
Malformation of the heart and great vessels -
Muscular hypotonia -
Pierre-Robin sequence -
Redundant neck skin -
Short nose -
Short palm -
Short palpebral fissure -
Telecanthus -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, et al. Am J Med Genet A. 2003 Nov 15; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=14556252%5Buid%5D. Accessed 4/17/2008.
  2. Toriello HV, Hatchwell E. 2008.. Toriello-Carey Syndrome Phenotype and Chromosome Anomalies. Am J Med Genet Part A 146A:116.


Other Names for this Disease
  • Corpus callosum agenesis facial anomalies Robin sequence
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.