Deaf Blind Hypopigmentation Syndrome Yemenite Type C1866425
A rare syndrome causing hearing loss, vision impairment, and light skin or hair coloring. Originally described in people from Yemen. Care involves hearing and vision support along with genetic counseling.
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
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sensorineural hearing loss
(ear)Visual impairment
(eye)Hypopigmentation of skin
(skin)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
Dopaminergic therapy
Dopamine agonists and levodopa form the pharmacological basis for managing parkinsonian features in DCTN1-related neurodegeneration. Individual response varies significantly; medication adjustment requires specialist oversight.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory function surveillance
Sleep-disordered breathing and hypoventilation require regular polysomnography and pulmonary function monitoring. Early detection of respiratory compromise is essential as this is a major cause of morbidity in Perry syndrome.
Additional treatment options
Psychiatric management
Psychiatric manifestations including depression, apathy, and behavioral changes require targeted psychopharmacological intervention and psychotherapy. Psychiatric symptoms often precede motor features and significantly impact quality of life.
psychologicalFall prevention and safety adaptations
Home safety modifications, assistive devices, and exercise programs focused on balance and gait help reduce fall risk. Physical conditioning programs maintain function while respecting fatigue limitations characteristic of this condition.
lifestyleNon-invasive ventilation support
Nocturnal non-invasive ventilation addresses hypoventilation and sleep apnea common in DCTN1-related neurodegeneration. Initiation requires sleep study confirmation and proper mask fitting with ongoing support for adherence.
procedureWhen 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 Deaf Blind Hypopigmentation Syndrome Yemenite Type C1866425?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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 27, 2026. · Read our editorial policy