Medicine:Toriello–Carey syndrome
| Toriello–Carey syndrome | |
|---|---|
| Specialty | Medical genetics |
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]
Presentation
One 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
The 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
References
- ↑ 1.0 1.1 "Toriello-Carey syndrome: delineation and review". Am J Med Genet A 123A (1): 84–90. November 2003. doi:10.1002/ajmg.a.20493. PMID 14556252.
- ↑ "Toriello-Carey syndrome: an additional case and summary of previously reported cases". Clin Dysmorphol 10 (2): 145–8. April 2001. doi:10.1097/00019605-200104000-00013. PMID 11310996.
- ↑ 3.0 3.1 "Update on the Toriello-Carey syndrome". Am J Med Genet A 170 (10): 2551–8. October 2016. doi:10.1002/ajmg.a.37735. PMID 27510950.
- ↑ 4.0 4.1 "Toriello-Carey syndrome". National Institutes of Health. https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome.
- ↑ "Toriello Carey syndrome". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338.
External links
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