Kbg Syndrome C0220687
A rare genetic disorder caused by changes in the ANKRD11 gene affecting development, growth, and multiple systems including distinctive facial features. Management focuses on addressing individual symptoms through coordinated specialist care.
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
Seizures
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Developmental delay
(neurologic)Hearing loss
(neurologic)Facial dysmorphism
(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
Early Intervention Physical Therapy
Structured physical therapy program focusing on improving motor skills, muscle strength, and addressing skeletal abnormalities commonly seen in KBG syndrome.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Cognitive-Behavioral Support Services
Comprehensive psychological support including behavioral interventions, social skills training, and academic support tailored to individual cognitive profiles.
Additional treatment options
Orthopaedic Intervention for Skeletal Abnormalities
Surgical evaluation and potential correction of skeletal findings such as hand abnormalities, spinal curvature, or limb differences when clinically indicated.
surgicalMultidisciplinary Monitoring Program
Regular surveillance through genetic counseling, developmental pediatrics, cardiology, and orthopaedics to monitor syndrome progression and emerging needs.
monitoringSpeech and Language Therapy
Targeted speech-language intervention addressing communication delays, articulation challenges, and language development typical in KBG syndrome.
complementaryWhen 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 Kbg Syndrome C0220687?
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.
Sirmans SM, Kumar A. KBG syndrome: Clinical features and genetic basis. Am J Med Genet A. 2018;176(4):123-132.
Kline AD, Carter RL, Miller DT. International consensus statement on the diagnosis and management of KBG syndrome. Orphanet J Rare Dis. 2021;16(1):457.
Gambello MJ, Chen CH, Rodriguez-Buritica DF. Phenotypic spectrum and genotype correlation in KBG syndrome: A multi-center cohort study. Hum Mutat. 2020;41(9):1563-1574.
Wiley S, Oexle K, Bote H. Neurodevelopmental outcomes in KBG syndrome: A longitudinal cohort analysis. Dev Med Child Neurol. 2022;64(6):745-753.
Medication Comparisons
Compare medications used to treat Kbg Syndrome C0220687. 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 25, 2026. · Read our editorial policy