Toriello Carey Syndrome
Corpus Callosum Agenesis
In The US: About 50 cases.
Blepharophimosis and Robin Sequence
Genetic and Rare Diseases Information Center
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
At least 50 cases have been reported since the first description in 1988.
Main clinical signs include telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence (micrognathia, glossoptosis and cleft palate), abnormally shaped ears, redundant neck skin and features of midline structural abnormalities with agenesis of corpus callosum, laryngeal anomalies and congenital heart defects. Short hands and hypotonia may also be observed. Patients have a moderate to severe intellectual disability.
The etiology of Toriello-Carey syndrome is not fully understood, but there is evidence that this is a heterogeneous condition, with chromosome anomalies identified in approximately 20%, and at least two candidate genes identified: MN1 (22q12.1) which has been reported in a microdeletion and SATB2 (2q33.1), interrupted by a de novo balanced translocation in another patient.
Imaging studies of the brain to determine if the corpus callosum is abnormal and physical examination paying particular attention to ocular spacing and palatal structure. A chromosomal microarray is indicated in any child with a Toriello-Carey phenotype.
There are few conditions which include the combination of abnormalities of the corpus callosum and Pierre-Robin sequence. Two such conditions are Aicardi syndrome (in which Robin anomaly is a rare occurrence) and TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) (see these terms).
The combination of corpus callosum anomalies and micrognathia should suggest the diagnosis.
If a chromosomal microdeletion/duplication has been ruled out, inheritance is autosomal recessive and the recurrence risk is likely 25%.
The syndrome is associated with decreased life span.