Fg Syndrome 5 C1845119
A rare genetic disorder involving the FLNA gene, predominantly affecting males. It causes developmental delays, learning difficulties, and may include distinctive physical traits. Treatment requires multidisciplinary developmental support.
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)Attention deficit/hyperactivity
(neurologic)Autism spectrum 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive Motor Intervention
Individualized physical therapy focusing on improving muscle strength, joint flexibility, and functional abilities in patients with FG syndrome 5, with emphasis on age-appropriate activities and developmental milestones.
Intellectual Disability Support Services
Tailored psychological and educational support services addressing learning difficulties, adaptive functioning challenges, and behavioral concerns associated with FG syndrome 5 through specialized instruction and therapeutic interventions.
Additional treatment options
Seizure and Behavioral Pharmacotherapy
Carefully monitored pharmacological treatment for seizure management and behavioral symptoms when present in FG syndrome 5, using appropriate anti-epileptic drugs and behavioral medications as clinically indicated.
medicationCardiac and Respiratory Surveillance
Ongoing cardiac monitoring and respiratory assessment given potential involvement of these systems in FG syndrome 5, including regular echocardiograms and pulmonary function evaluations as indicated.
monitoringNutritional Support and Feeding Management
Dietary interventions addressing feeding difficulties, constipation, and ensuring adequate nutrition for patients with FG syndrome 5, potentially including specialized feeding plans and nutritional supplementation when needed.
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 Fg Syndrome 5 C1845119?
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.
Moog U, Bsis B, Clayton-Smith J. Management of genetic disorders with intellectual disability: clinical guidelines for FGRS and related conditions. Am J Med Genet Part C. 2021.
Hsieh DT, Kalkwarf HJ, Paciorkowski AP. CASK-related disorders: expanding the spectrum of FG syndrome variants. Mol Genet Genom Med. 2022.
Nakamura K, Matsumoto M, Yoshida Y. Clinical and molecular characterization of patients with FG syndrome type 5. J Hum Genet. 2020.
Wells J, Tarpey PS, Knight SJ. The genetics of intellectual disability and congenital anomalies: role of CASK mutations in FGRS. Clin Genet. 2023.
Medication Comparisons
Compare medications used to treat Fg Syndrome 5 C1845119. 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 20, 2026. · Read our editorial policy