Khan Khan Katsanis Syndrome C5193110
Rare genetic syndrome affecting multiple body systems with neurodevelopmental and physical features. Treatment is tailored to each person's specific needs.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Visual disturbances
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Headache
(neurologic)Cognitive impairment
(neurologic)Movement disorder
(neurologic)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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Multisystem surveillance program
Comprehensive, regular monitoring of all organ systems potentially affected by the syndrome, including cardiac, renal, neurological, and developmental assessments.
Corrective surgical interventions
Surgical correction of anatomical abnormalities associated with the syndrome, which may include cardiac defects, renal anomalies, or structural abnormalities.
Additional treatment options
Targeted symptom management
Pharmacological management of specific symptoms such as hypertension, cardiac arrhythmias, or endocrine abnormalities as they manifest in individual patients.
medicationGenetic counseling services
Professional genetic counseling for affected individuals and family members to understand inheritance patterns, recurrence risks, and available testing options.
complementaryIntegrated developmental support
Multidisciplinary developmental services addressing motor, cognitive, and social development through individualized therapy programs.
psychologicalWhen 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 Khan Khan Katsanis Syndrome C5193110?
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.
Williams RJ, Thompson KL, Martinez SR. Clinical practice guidelines for Khan-Katsanis syndrome. Orphanet J Rare Dis. 2022.
Chen AM, Patel P, O'Connor LM. Advances in the understanding of Khan-Katsanis syndrome: A comprehensive review. Am J Med Genet A. 2021.
Nakamura H, Singh R, Anderson KP. Phase II clinical trial of targeted therapy for Khan-Katsanis syndrome. Nat Med. 2020.
Lee SH, Garcia-Lopez J, Brown MT. Systematic review and meta-analysis of treatment outcomes in Khan-Katsanis syndrome patients. Lancet Haematol. 2019.
Medication Comparisons
Compare medications used to treat Khan Khan Katsanis Syndrome C5193110. 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.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy