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Toriello Carey syndrome

Other Names for this Disease
  • Corpus callosum agenesis facial anomalies Robin sequence
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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

  1. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, et al. Am J Med Genet A. 2003 Nov 15; 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.