Toriello–Carey syndrome explained

Toriello–Carey syndrome
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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]

External links

• Toriello-Carey syndrome on The Monarch Initiative

Notes and References

1. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E . 6 . Toriello-Carey syndrome: delineation and review . Am J Med Genet A . 123A . 1 . 84–90 . November 2003 . 14556252 . 10.1002/ajmg.a.20493 . 24053944 .
2. Wegner KJ, Hersh JA . Toriello-Carey syndrome: an additional case and summary of previously reported cases . Clin Dysmorphol . 10 . 2 . 145–8 . April 2001 . 11310996 . 10.1097/00019605-200104000-00013 .
3. Toriello HV, Colley C, Bamshad M . Update on the Toriello-Carey syndrome . Am J Med Genet A . 170 . 10 . 2551–8 . October 2016 . 27510950 . 10.1002/ajmg.a.37735 . free .
4. Web site: Toriello-Carey syndrome . Genetic and Rare Diseases Information Center . National Institutes of Health . 17 December 2020.
5. Web site: Toriello Carey syndrome . Orphanet . 17 December 2020.