Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Toriello Carey syndrome


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.

Overview

What is Toriello-Carey syndrome?

What symptoms are associated with Toriello-Carey syndrome?

What causes Toriello-Carey syndrome?

What treatment is available for Toriello-Carey syndrome?

What is Toriello-Carey syndrome?

Toriello-Carey syndrome is rare genetic condition which was first described in 1988 by Helga V. Toriello and John C. Carey. Although the signs and symptoms of the syndrome may vary from person to person, the condition is generally characterized by corpus callosum agenesis, unusual facial appearance, Pierre Robin sequence, and other anomalies.  Treatment is symptomatic.[1]
Last updated: 8/1/2013

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

What causes Toriello-Carey syndrome?

The exact cause of Toriello-Carey syndrome is unknown; however, the condition is genetic and is believed to be inherited in an autosomal recessive fashion.
Last updated: 8/1/2013

What treatment is available for Toriello-Carey syndrome?

Because symptoms vary from person to person, treatment is symptomatic and based on the individual.
Last updated: 8/1/2013

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.