What is the definition of Toriello-Carey Syndrome?

Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features, brain abnormalities, Pierre Robin sequence, swallowing difficulties, heart defects, low muscle tone (hypotonia), and moderate to severe intellectual disability. The genetic cause is not fully understood, but there is evidence it may be caused by mutations in one or more unidentified genes, or by a chromosome abnormality. When it is not due to a chromosome abnormality, inheritance is thought to be autosomal recessive. Treatment focuses on the specific signs and symptoms in each person.

What are the alternative names for Toriello-Carey Syndrome?

  • Corpus callosum agenesis facial anomalies Robin sequence
  • Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
  • Agenesis of corpus callosum with facial anomalies and Robin sequence

What are the causes for Toriello-Carey Syndrome?

The cause of Toriello-Carey syndrome (TCS) is not fully understood. There is evidence that the genetic cause may differ among people with this condition. It is estimated that at least 20% of people with a clinical diagnosis of TCS have a chromosome abnormality that is responsible for their signs and symptoms. No basis for the non-chromosomal cases has been found. As a result, there has been an ongoing effort to identify specific genes that might cause TCS in these cases.

What are the symptoms for Toriello-Carey Syndrome?

The specific features and severity associated with Toriello-Carey syndrome varies among affected people. In 2003, Toriello et al. published a review article in which they reported the features of 45 individuals with TCS. In that review, it was found that most children had normal weight, length, and head circumference at birth, but subsequently developed growth failure and microcephaly. Not all had neonatal problems, but those who did most commonly had respiratory distress or feeding and swallowing difficulties. All had some degree of developmental delay or intellectual disability. 

Common facial features (present in more than half) in children with Toriello-Cary syndrome include: 
  • 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 and cleft 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: 
  • 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

What are the current treatments for Toriello-Carey Syndrome?

There is no specific treatment for people with Toriello-Carey syndrome. Management is based on the signs and symptoms present in each person.

What is the outlook (prognosis) for Toriello-Carey Syndrome?

Toriello-Carey syndrome (TCS) is associated with a decreased life span. Respiratory failure, one of the most serious problems in people with TCS (particularly during the neonatal period), can lead to death. Other anomalies in people with TCS that have been associated with mortality include cardiac (heart) defects, laryngeal anomalies, and tracheal anomalies. Congenital tracheal stenosis is a life-threatening condition with high mortality. Even if surgery is successful, several serious complications can result. We are not aware of estimates of life expectancy. In a review published by Toriello et al in 2003, the oldest patient at the time of the review was a 14 year old female.

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