Toriello–Carey syndrome is a genetic disorder that is characterized by Pierre Robin sequence and agenesis of the corpus callosum.[1][2] Children with the disorder also possess a characteristic facial phenotype.[3]
| Toriello–Carey syndrome | |
|---|---|
| Specialty | Medical genetics |
Presentation
editOne of the main characteristics of the disorder is its facial phenotype. Children have hypertelorism or telecanthus, small nose, short or sparse eyelashes, oral anomalies (such as cleft palate, Pierre Robin sequence, and micrognathism), abnormal ears, and a short neck. Regarding growth and development, children experience mental retardation and post-natal growth failure (such as failure to thrive and delayed milestone). Neurological abnormalities include defects of the corpus callosum, hypotonia, and hearing loss.[1][3]
Causes
editThe etiology of the disorder is not fully understood. Genetic anomalies have been found in approximately 20% of patients. Genetic analysis of these patients suggests Toriello–Carey syndrome is a heterogeneous disorder.[4] Candidate genes include MN1 and SATB2.[5] In patients without genetic anomalies, the basis for the disorder is undetermined.[4]
Diagnosis
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References
edit- ^ a b Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, et al. (November 2003). "Toriello-Carey syndrome: delineation and review". Am J Med Genet A. 123A (1): 84–90. doi:10.1002/ajmg.a.20493. PMID 14556252. S2CID 24053944.
- ^ Wegner KJ, Hersh JA (April 2001). "Toriello-Carey syndrome: an additional case and summary of previously reported cases". Clin Dysmorphol. 10 (2): 145–8. doi:10.1097/00019605-200104000-00013. PMID 11310996.
- ^ a b Toriello HV, Colley C, Bamshad M (October 2016). "Update on the Toriello-Carey syndrome". Am J Med Genet A. 170 (10): 2551–8. doi:10.1002/ajmg.a.37735. PMID 27510950.
- ^ a b "Toriello-Carey syndrome". Genetic and Rare Diseases Information Center. National Institutes of Health. Retrieved 17 December 2020.
- ^ "Toriello Carey syndrome". Orphanet. Retrieved 17 December 2020.