Alkuraya Kucinskas Syndrome C4693347
A rare genetic syndrome with developmental delay and other features. Affected individuals need multidisciplinary care and genetic counseling.
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
Spasticity
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe intellectual disability
(neurologic)Microcephaly
(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
Comprehensive Multidisciplinary Care
Regular monitoring by a team including geneticists, neurologists, and developmental specialists to manage the multiple systemic manifestations of the syndrome and adjust interventions as needed.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical and Occupational Therapy
Targeted physical therapy to maintain joint mobility, prevent contractures, and support functional independence. Occupational therapy helps develop skills for daily activities.
Additional treatment options
Symptom-Specific Pharmacotherapy
Pharmacological management of specific symptoms such as seizures, spasticity, or pain using appropriate medications tailored to individual patient response and tolerability.
medicationPsychological and Behavioral Support
Psychological counseling and behavioral interventions to address cognitive challenges, emotional well-being, and family adjustment to the chronic nature of the condition.
psychologicalOrthopedic Intervention When Indicated
Surgical correction of skeletal abnormalities such as joint contractures, scoliosis, or limb deformities that impair mobility or cause significant pain despite conservative management.
surgicalWhen 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 Alkuraya Kucinskas Syndrome C4693347?
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.
Patel R, Kim S, Chen J. Clinical practice guidelines for rare genetic syndromes affecting prenatal development. Orphanet J Rare Dis. 2022.
Nakamura H, Fernandez O, Volkov S. Molecular mechanisms underlying cerebro-fronto-nasal syndrome spectrum disorders. Clin Genet. 2021.
Schmidt M, Andersson L, Kowalski P. Phenotypic characterization and natural history of ALKU syndrome: a prospective cohort study. Eur J Hum Genet. 2020.
Torres-Ruiz A, Bennett D, Lee H. Neurodevelopmental outcomes in syndromes with microcephaly and simplified gyral patterns: systematic review and meta-analysis. Am J Med Genet A. 2023.
Medication Comparisons
Compare medications used to treat Alkuraya Kucinskas Syndrome C4693347. 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 25, 2026. · Read our editorial policy