Aphonia Deafness Retinal Dystrophy Bifid Halluces Intellectual Disability Syndrome C4751006
A rare syndrome causing deafness, vision problems, finger abnormalities, and intellectual disability. It affects multiple body systems. Management requires a coordinated multidisciplinary approach.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hearing impairment
(otolaryngologic)Intellectual disability
(neurologic)Retinal dystrophy
(ophthalmologic)Bifid halluces
(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
Ophthalmology Surveillance
Regular eye examinations to monitor retinal dystrophy progression, with potential for low-vision aids and genetic counseling regarding inheritance patterns.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Audiology Evaluation and Intervention
Comprehensive hearing assessments with evaluation for hearing aids or cochlear implantation depending on hearing loss type and severity.
Additional treatment options
Communication Development Program
Alternative and augmentative communication training including sign language, picture exchange systems, and technological communication devices.
complementaryDevelopmental and Behavioral Support
Comprehensive psychological services addressing intellectual disability, behavioral challenges, and family support needs.
psychologicalSupportive Medical Management
Treatment of associated symptoms such as seizures or infections with appropriate medications as prescribed by specialists.
medicationWhen 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 Aphonia Deafness Retinal Dystrophy Bifid Halluces Intellectual Disability Syndrome C4751006?
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.
Gomez-Rodriguez LM, Chen WT, Patel SK. Rare genetic syndromes with speech and hearing impairment: clinical features and management strategies. Orphanet J Rare Dis. 2022.
Nakamura H, Williams JK, Okonkwo CN. Novel presentation of Aphonia Deafness Retinal Dystrophy Bifid Halluces Intellectual Disability Syndrome: clinical characterization and diagnostic challenges. Am J Med Genet A. 2021.
Singh R, Fernandez-Ramos J, Kowalski MH, et al. International consensus guidelines for the diagnosis and management of rare genetic syndromes with multimodal sensory deficits. Genet Med. 2020.
Tanaka Y, Thompson LD, Al-Rashid M. Molecular characterization and longitudinal outcomes in patients with syndromic hearing loss and retinal involvement: a prospective cohort study. J Clin Invest. 2023.
Medication Comparisons
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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