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Kapur Toriello syndrome — Clinical Guidelines

Overview

Kapur Toriello syndrome is a rare genetic disorder characterized by multiple congenital anomalies including agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, cardiac defects, laryngeal anomalies, brachydactyly, hypotonia, and developmental delay 1 3 4 5.

Diagnosis

Key Diagnostic Criteria:

- Agenesis of the corpus callosum - Telecanthus and short palpebral fissures - Small nose with anteverted nares - Retrognathia and malformed ears - Cardiac anomalies and laryngeal defects - Hypotonia and developmental delay - Robin sequence (cleft palate/hypoglossia) 1 3 4

Recommended Tests:

- Neuroimaging (MRI) to confirm corpus callosum agenesis - Echocardiography to evaluate cardiac anomalies - Genetic testing, particularly for SATB2 gene analysis in cases with chromosomal abnormalities 2

Management

First-Line Treatments:

- Supportive care for hypotonia and feeding difficulties - Cardiac interventions for detected cardiac defects - Early intervention programs for developmental delays 1 3

Adjunctive Treatments:

- Physical therapy to address motor skill development - Speech therapy for communication difficulties - Monitoring and management of respiratory issues related to laryngeal anomalies 1 3

Special Populations

Pediatrics:

- Severe phenotype often leads to early infancy mortality 3 4 - Focus on palliative care and symptom management

Comorbidities:

- High incidence of multiple congenital anomalies requiring multidisciplinary care 1 3 4

Key Recommendations

Genetic testing, including SATB2 gene analysis, should be considered in cases with chromosomal abnormalities to identify potential causative mutations. (Evidence: Moderate 2)

Early intervention programs are essential for managing developmental delays in affected children. (Evidence: Expert opinion 1 3)

Multidisciplinary care teams should manage patients due to the complexity of associated congenital anomalies. (Evidence: Expert opinion 1 3 4)

References

1 Uras N, Sandal G, Oguz S, Aydemir O, Erdeve O, Dilmen U. Toriello-Carey syndrome in a Turkish newborn. Genetic counseling (Geneva, Switzerland) 2009. link 2 Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G et al.. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. Clinical genetics 2009. link 3 Barisic I, Peter B, Mikecin L. Further delineation of the Toriello-Carey syndrome: a report of two siblings. American journal of medical genetics. Part A 2003. link 4 Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T et al.. Two sisters with Toriello-Carey syndrome. American journal of medical genetics 1999. link1096-8628(19991126)87:3<262::aid-ajmg13>3.0.co;2-3) 5 Czarnecki P, Lacombe D, Weiss L. Toriello-Carey syndrome: evidence for X-linked inheritance. American journal of medical genetics 1996. link1096-8628(19961111)65:4<291::AID-AJMG9>3.0.CO;2-S)

Kapur Toriello syndrome