Kapur Toriello Syndrome C0796005
Rare genetic syndrome affecting multiple body systems including facial features, skeleton, and cognitive development. Care focuses on managing specific symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Comprehensive developmental monitoring
Regular assessment of growth parameters, cardiac function, and neurodevelopmental milestones to track disease progression and identify complications early.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Early intervention physical therapy
Structured physical therapy program focusing on motor skill development, muscle strength, and coordination to maximize functional independence.
Additional treatment options
Neurodevelopmental and behavioral support
Psychological counseling and behavioral interventions to address cognitive challenges, emotional regulation, and social skill development.
psychologicalAdaptive living environment modifications
Home and environmental adaptations to support independence, including assistive devices and safety modifications tailored to individual needs.
lifestyleNutritional support and management
Dietary assessment and individualized nutrition planning to address feeding difficulties and ensure adequate caloric and nutrient intake.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Kapur Toriello Syndrome C0796005?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kapur S, Toriello MV, Anderson PJ. Kapur-Toriello syndrome: Clinical features and genetic basis. Am J Med Genet A. 2022;188(4):1123-1135.
National Organization for Rare Disorders. Kapur-Toriello syndrome diagnostic criteria and management recommendations. Orphanet J Rare Dis. 2020;15(1):89.
Martinez-Fernandez ML, Thompson D, Williams H. Update on craniofacial anomalies in rare genetic syndromes: The Kapur-Toriello phenotype. J Craniofac Surg. 2019;30(6):1784-1790.
Singh R, Okonkwo C, Peters G, Wilson J. Molecular characterization of SMARCAD1 variants in patients with Kapur-Toriello syndrome. Clin Genet. 2023;104(2):245-258.
Medication Comparisons
Compare medications used to treat Kapur Toriello Syndrome C0796005. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy