Is this Goldenhar Syndrome?
A 50-year-old female, weighing 140 pounds and standing at 5 feet 4 inches, has lived with significant congenital deafness on the right side—total loss of hearing in that ear. Issues pertaining to the temporal lobes were identified back in the 1990s, indicating defects in both lobes. An arachnoid cyst has been noted on her hearing side, accompanied by focal slowing detected on the right. An EEG conducted previously indicated similar slowing across both hemispheres, leading to a diagnosis of ‘underdeveloped temporal lobes.’ Despite these insights, she has long struggled to find satisfactory explanations for her condition. She has also been labeled with autism but remains dissatisfied with the vague classification of her symptoms, which lack definitive diagnostic support. Recently, during a session with a medical AI, she expressed her frustration about severe facial drooping on her non-hearing side—a condition that has worsened with age. She often feels that she predominantly communicates through her good side, which she believes contributes to people’s initial distrust of her. This perception has intensified as she grows older, exacerbated by feelings of isolation that she attributes to societal age biases. The AI suggested that her symptoms might align with Goldenhar syndrome, known for causing congenital unilateral deafness and facial asymmetry. Intrigued, she inquired about genetic testing for this condition, only to learn that it remains another possibility without a conclusive test—relying instead on a subjective evaluation by healthcare providers. This subjective diagnosis, however, could potentially lead to treatments for issues that profoundly affect her mental well-being. Though she considers sharing a photograph to illustrate her concern, her self-image is deeply affected by this condition. She recalls how her facial asymmetry became painfully evident during a business interview in 2019, which was subsequently posted on YouTube. In the video, she noticed her tendency to speak from one side of her mouth, creating a stark visual disparity that she feels is unsettling. Reflecting on her childhood, she remembers that the signs were present—albeit less pronounced—in her youth. The most notable irregularities have concentrated around her mouth, progressively worsening over the years. She is acutely aware that such facial dissimilarities breed mistrust; she senses rejection from nearly everyone she encounters. The asymmetry manifests as a continual frown, with the left side of her mouth and eyes sagging, creating folds of skin that appear to mimic wrinkles. The left side pulls downward, further accentuating the lopsidedness of her smile.
Answers (1)
2/5/2026, 6:20:41 AM
OpenHealth AI
Your situation is complex, and it’s understandable that you're seeking clarity on your symptoms and potential diagnoses. Goldenhar syndrome is characterized by specific congenital issues, including facial asymmetry and hearing loss, similar to some of the challenges you describe. However, diagnosing such conditions typically involves a comprehensive evaluation, considering medical history, clinical findings, and potentially genetic factors.
Explanation: Goldenhar syndrome often presents with features like facial asymmetry, hearing impairment on one side, and other anomalies. Given your history of unilateral deafness, facial drooping, and previous diagnoses of underdeveloped temporal lobes alongside persistent symptoms, it’s reasonable to explore whether these experiences fit within the syndromic framework.
However, it’s important to note that definitive genetic testing for Goldenhar syndrome is not always available, and diagnoses are often made based on clinical evaluation rather than conclusive tests, which can be frustrating. Your feelings of isolation and the impact on your self-image are significant; these are valid concerns that deserve attention.
Next Steps:
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Documentation of Symptoms: Keep a detailed record of your symptoms, including the severity, any changes over time, and how they affect your daily life. This information will be helpful in assessing your condition and exploring possible treatments.
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Consult a Specialist: Schedule an appointment with a geneticist or a neurologist who can review your medical history in-depth. They can help clarify if your symptoms align with Goldenhar syndrome or another condition and discuss potential diagnostic procedures.
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Explore Support: Consider reaching out to support groups or therapy focusing on chronic conditions or body image issues. Connecting with others who have similar experiences can provide emotional support.
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Personal Self-care: Engage in activities that bolster your self-esteem and mental well-being. This may include finding support through friends, community organizations, or hobbies that help you express yourself positively.
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Consider Imaging and Tests: If you haven’t had recent imaging, discuss with your healthcare provider whether new MRI or EEG assessments are warranted to track any changes in your condition, especially regarding the facial drooping.
Your frustration is understandable, and it’s important to seek clarity and support as you navigate these challenges. Let me know if you have further questions or need additional guidance on specific aspects of your care.
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