Toriello Carey syndrome
- Corpus callosum agenesis facial anomalies Robin sequence
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.
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.
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.
- 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.
- Toriello HV, Hatchwell E. 2008.. Toriello-Carey Syndrome Phenotype and Chromosome Anomalies. Am J Med Genet Part A 146A:116.