MOEBIUS SYNDROME
 
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MOEBIUS SYNDROME

 

DEFINITION:

A disorder of unknown etiology characterized by cranial nerve palsies and limb abnormalities.

EPIDEMIOLOGY:

  • incidence: rare (over 100 cases reported)
  • age of onset:
    • newborn (dysmorphic features)
  • risk factors:
    • sporadic
    • rarely familial - autosomal dominant and autosomal recessive
    • M = F

PATHOGENESIS:

1. Background

  • this syndrome may be one of a wider spectrum of syndromes involving the disruption of both facial and limb development

2. Genetic Defect

  • genetic defect -> abnormal neurodevelopment of the cranial nerves
  • cranial nuclear hypoplasia -> cranial nerve palsies - cranial nerves VI and VII most affected with cranial nerves V and VII affected occasionally

CLINICAL FEATURES:

1. Neurological Manifestations

1. Cranial Nerve Palsies

1. Cranial Nerve VI

  • loss of lateral gaze

2. Cranial Nerve VII

  • bilateral facial palsy/diplegia
    • mask-like expressionless face with mouth constantly held open
    • lower portion of face is usually less affected than upper (lower face & platysmal may be spared)
    • complications:
      • feeding problems and failure to thrive
      • bulbar paralysis leading to swallowing problems, recurrent aspiration & pneumonias - corneal exposure, drying, and abrasions due to inability to completely close eyes
      • speech anomalies
    • associated features:
      • micrognathia
      • small tongue
      • weak palate and masseter muscles

3. Cranial Nerve VIII

  • hearing loss

2. Others

  • mild mental retardation in 10-15%
  • conductive hearing loss
  • speech problems - disarticulation

2. Musculoskeletal Manifestations

1. Limb Defects

  • syndactyly, brachydactyly
  • talipes equinovarus

2. Absence of Pectoralis Muscles

INVESTIGATIONS:

1. Imaging Studies

1. MRI/CT

  • enlarged basal cisterns
  • hypoplastic nuclei of cranial nerves VI and VII

2. EMG/Conduction Studies

  • normal

MANAGEMENT:

1. Supportive

  • no treatment for underlying disorder
  • multidisciplinary approach
    • Paediatrics, Neurology, ENT, Plastics, Ophthalmology, Speech
    • Therapy
    • may require G- or J-tube feeds

2. Prognosis

  • quality of life depends upon the degree of severity
  • when limb anomalies noted, the recurrence risk increases to 2%

INTERNET LINKS:

Moebius Syndrome Foundation
Moebius Syndrome Foundation of Canada
 Moebius Syndrome Foundation of Australia
 Moebius Syndrome

 

 

Pediatric Database - MOEBIUS SYNDROME

 

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