Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency C4016851
A rare genetic disorder affecting hair and hearing, causing brittle, twisted hair and sensorineural deafness due to mitochondrial dysfunction.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Sensorineural hearing loss
(ENT)Pili torti
(dermatologic)Exercise intolerance
(musculoskeletal)Ataxia
(neurological)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.
Mitochondrial support therapy
Coenzyme Q10 and L-carnitine supplementation to support mitochondrial electron transport chain function and improve cellular energy production.
Audiological monitoring
Regular hearing assessments to monitor progression of sensorineural hearing loss and guide need for hearing amplification devices.
Additional treatment options
Hearing amplification
Fitting of hearing aids or cochlear implants for management of sensorineural hearing loss associated with Bjornstad syndrome.
procedureEnergy conservation techniques
Pacing strategies and activity modifications to manage fatigue associated with mitochondrial dysfunction and preserve energy for essential activities.
lifestyleDietary optimization for mitochondrial function
Nutritional support with antioxidant-rich foods, adequate protein, and complex carbohydrates to support mitochondrial health and reduce oxidative stress.
complementaryWhen 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 Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency C4016851?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy