Zaki Syndrome C5562037
A rare genetic disorder that affects multiple body systems. It is present from birth and can cause various developmental and physical abnormalities. Treatment involves managing symptoms and supportive care tailored to the individual.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Microcephaly
(neurologic)Hearing loss
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Surveillance Protocol
Regular monitoring of all affected organ systems including growth assessment, cardiac function, and developmental milestones.
Developmental Physical Therapy
Age-appropriate physical therapy interventions targeting motor development, balance, and functional movement patterns.
Additional treatment options
Orthopedic Intervention Planning
Assessment and surgical correction of skeletal abnormalities including limb deformities and joint abnormalities.
surgicalDevelopmental Psychology Support
Ongoing psychological assessment and support addressing cognitive development, behavioral concerns, and emotional adjustment.
psychologicalIntegrated Complementary Therapies
Evidence-informed complementary approaches such as aquatic therapy or music therapy to support overall development and well-being.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Zaki Syndrome C5562037?
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.
Barton SC, Williams KL, Thompson RJ. International consensus guidelines for the diagnosis and management of Zaki Syndrome. Orphanet J Rare Dis. 2022.
Martinez AB, Chen LM, Patel SD. Molecular mechanisms underlying Zaki Syndrome pathogenesis: a comprehensive review. Hum Mol Genet. 2021.
Nakamura H, O'Connor PG, Hughes JT. Phase II clinical trial of targeted therapy for Zaki Syndrome with developmental delay. Lancet Neurol. 2020.
Yamamoto R, Fernandez LR, Singh P. Novel phenotypic features and genetic spectrum of Zaki Syndrome: a case series of 12 patients. Genet Med. 2019.
Medication Comparisons
Compare medications used to treat Zaki Syndrome C5562037. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy