Genomic coordinate (human 10:62,800,001).
Cytoband (human 10q21.3).
Here present: “Moebius Syndrome-3”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 莫比烏斯綜合症 icd10=Q87.0
Moebius syndrome-3 is a congenital neurological disorder causing facial paralysis, preventing smiling, frowning, or blinking, and limiting sideways eye movement, often accompanied by feeding, speech, and developmental delays, as well as potential limb and hearing issues, stemming from underdeveloped facial nerves (6th & 7th cranial nerves) during fetal development, but usually with normal intelligence despite misunderstandings due to lack of expression. Management involves addressing specific challenges like feeding, speech therapy, and eye care, with a positive outlook for most with comprehensive care.
Key Characteristics
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Facial Paralysis: Inability to smile, frown, grimace, or close eyes fully, leading to drooling and dry eyes.
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Eye Movement Issues:Difficulty moving eyes side-to-side, causing head turning to follow objects; often includes crossed eyes (strabismus).
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Feeding/Swallowing Problems: Impaired sucking and swallowing, common at birth.
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Speech Difficulties: Issues with lip and tongue movement, affecting speech clarity.
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Other Potential Issues:Developmental delays, hearing loss, hand/foot anomalies (like clubfoot), and dental problems.
Causes
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Believed to be caused by a disruption in blood flow to the brainstem in early fetal development (around 4-7 weeks gestation).
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Typically sporadic (not inherited), though rare familial cases exist.
Living with Moebius Syndrome
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Social Challenges: Lack of facial expression can lead to misinterpretation as dullness or unfriendliness, but individuals often have normal intelligence and complex emotions.
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Management: Focuses on managing symptoms through physical, occupational, and speech therapy; eye drops for dryness; and sometimes surgical interventions for strabismus or dental issues.
- There is evidence that Moebius Syndrome is caused by mutation in the MBS3 gene encoded on genomic coordinate 10:62,800,001 and cytoband 10q21.3 in humans.
