Fraser Jequier Chen Syndrome C2930912
A rare genetic syndrome combining features like absent eyes, hearing loss, and kidney abnormalities. Treatment addresses each symptom present in the individual.
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
Laryngeal hypoplasia
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Syndactyly
(musculoskeletal)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
Anatomical Abnormality Correction
Surgical intervention to correct structural abnormalities associated with Fraser-Jequier-Chen Syndrome such as syndactyly, cryptorchidism, or other congenital defects. Timing determined by specialists.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Comprehensive Multisystem Surveillance
Regular monitoring of all affected organ systems including renal function, hearing, vision, and developmental milestones through coordinated specialist care.
monitoringDevelopmental Supportive Therapy
Physical and occupational therapy to address motor delays, improve hand function, and support developmental progress. Therapy is adapted to individual structural limitations.
physical_therapyFamily Counseling and Genetic Counseling
Psychological support for patients and families dealing with a rare genetic diagnosis. Genetic counseling provides information on inheritance patterns and family planning options.
psychologicalNutritional Support
Nutritional assessment and support addressing feeding difficulties or growth concerns common in syndromic conditions. May include modified textures, supplementation, or feeding tube considerations.
dietaryWhen 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 Jequier Chen Syndrome C2930912?
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 Jequier Chen Syndrome C2930912. 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