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Mobius syndrome; congenital facial diplegia; oromandibular-limb hypogenesis
Etiology:
- birth defect caused by the absence or underdevelopment of cranial nerve 6 & cranial nerve 7
Epidemiology: rare
Pathology:
1) small or absent brain stem nuclei
2) decreased numbers of muscle fibers
3) deformities of the tongue, jaw, & limb
Clinical manifestations:
1) suckling defect 1st symptom present at birth
2) feeding, swallowing, & choking
3) excessive drooling
4) crossed eyes
5) lack of facial expression
6) inability to smile
7) eye sensitivity
8) motor delays
9) high or cleft palate
10) hearing impairment
12) clubfoot
13) missing or webbed fingers
14) speech impairment
15) as children get older, lack of facial expression & inability to smile become the dominant visible symptoms
Management:
1) no specific treatment
2) Infants may require feeding tubes or special bottles to maintain sufficient nutrition
3) physical therapy & speech therapy improves coordination & ability to eat & speak
4) surgery may correct crossed eyes & improve limb & jaw deformities
5) plastic reconstructive surgery may be beneficial
- nerve & muscle transfers to the corners of the mouth may provide limited ability to smile
6) prognosis is generally good; life expectancy is normal
General
facial disorder/injury/anomaly
developmental disorder
References
- NINDS Mobius Syndrome Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Moebius-Syndrome-Information-Page