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.

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

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.

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

at the time of the review was a 14 year old female.