Fraser Syndrome 1 C4551480
A rare genetic disorder affecting multiple body systems including eyes, ears, kidneys, and genitalia. Management involves addressing specific complications surgically and medically.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cryptophthalmos
Renal agenesis
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Syndactyly
(musculoskeletal)Ambiguous genitalia
(reproductive)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
Critical Structural Abnormality Repair
Surgical correction of life-threatening abnormalities including airway obstruction, urinary tract anomalies, or other structural defects associated with Fraser Syndrome. Timing is critical for survival.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Neonatal and Ongoing Critical Care Monitoring
Intensive monitoring during the neonatal period for airway patency, renal function, and other vital systems. Long-term follow-up for all organ systems affected by the syndrome.
Additional treatment options
Diagnostic Procedures and Genetic Confirmation
Confirmatory diagnostic procedures including genetic testing, imaging studies, and specialist evaluations to establish complete diagnosis and guide treatment planning.
procedureRehabilitation and Functional Development
Long-term physical and occupational therapy to maximize functional abilities, address motor delays, and support developmental progress following surgical interventions.
physical_therapyLong-term Psychological Support
Ongoing psychological support for patients and families managing a complex rare syndrome. Addresses adjustment, coping, and quality of life concerns throughout the lifespan.
psychologicalWhen 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 Fraser Syndrome 1 C4551480?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Fraser Syndrome 1 C4551480. 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 20, 2026. · Read our editorial policy