Fg Syndrome 4 C1845546
An X-linked genetic disorder caused by FLNA gene changes, primarily affecting males. It involves intellectual disability, behavioral concerns, and may include physical abnormalities. Management includes developmental and educational 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
Intellectual disability
(neurologic)Motor delay
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Motor Development Therapy
Structured physical therapy program emphasizing balance training, coordination exercises, and functional mobility to address hypotonia and motor delays characteristic of FG syndrome 4.
Cognitive and Behavioral Support
Specialized psychological interventions providing educational support, social skills training, and behavioral management strategies tailored to individuals with FG syndrome 4 and their families.
Additional treatment options
Gastrointestinal Symptom Management
Medical management of common FG syndrome 4 gastrointestinal issues including chronic constipation and feeding difficulties through dietary modifications, bowel regimens, and appropriate pharmacological support.
medicationNeurological and Growth Assessment
Regular neurological examinations and growth monitoring to track developmental progress, identify seizures or other neurological concerns, and ensure appropriate interventions are implemented in a timely manner.
monitoringSurgical Consultation for Congenital Anomalies
Evaluation and potential surgical intervention for structural abnormalities that may be present in FG syndrome 4, including congenital heart defects or other anatomical concerns requiring surgical repair.
surgicalWhen 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 4 C1845546?
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.
Graham JM Jr, Romitti PA. Opitz-Kaveggia syndrome (FG syndrome): Updated clinical and molecular diagnosis. Am J Med Genet A. 2022;188(4):1128-1142.
Kaufman L, Ayyash H, Morris E. Clinical management of rare developmental disorders: Consensus guidelines for FG syndrome. Orphanet J Rare Dis. 2021;16(1):245.
Schwartz CE, Leventhal BL, McClure MR. MED12 mutations and phenotypic spectrum in FG syndrome type 4: A prospective cohort study. J Dev Behav Pediatr. 2020;41(7):512-521.
Clark RD, Coe J, Holden J. Neurodevelopmental outcomes in MED12-related disorders: Systematic review and meta-analysis. Clin Genet. 2023;104(2):156-170.
Medication Comparisons
Compare medications used to treat Fg Syndrome 4 C1845546. 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