OPITZ-FRAIS SYNDROME
 
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OPITZ-FRAIS SYNDROME

 

DEFINITION:

A disorder of unknown etiology characterized by specific facies, Genitourinary manifestations, and a hoarse or stridorous cry.

EPIDEMIOLOGY:

  • incidence: rare (at least 30 cases reported)
  • age of onset:
    • newborn (dysmorphic facies)
  • risk factors:
    • familial - autosomal dominant
      • chrom.#: ?
      • gene: ?
    • M >> F

PATHOGENESIS:

1. Background

  • described by Opitz et al. in 1965 and 1969
  • also referred to as G Syndrome or Opitz Syndrome

2. Genetic Defect

  • genetic defect -> abnormalities of midline organs and structures with a variable phenotype ranging from neonatal lethality to mild symptoms with some heterozygotes having no manifestations

CLINICAL FEATURES:

1. Facial Dysmorphisms

1. Ophthalmologic

  • hypertelorism
  • epicanthal folds
  • slit-like palpebral fissures
  • strabismus

2. Others

  • dolichocephalic skull (with prominent occiput and parietal eminences)
  • large anterior fontanelle
  • low set posteriorly rotated ears
  • flattened or prominent nasal bridge
  • anteverted nostrils
  • flat philtrum
  • hoarse voice and cry
  • cleft lip, palate, uvula, or tongue
  • micrognathia

2. Genitourinary Manifestations

  • bifid scrotum
  • cryptorchidism
  • hypospadias
  • hernias

3. Other Manifestations

1. Neurologic

  • mild-moderate mental retardation (in 50% of cases)

2. Respiratory

  • aspiration complicated by episodes of choking and cyanosis, recurrent pneumonias, and bronchiectasis

3. Gastrointestinal

  • esophageal dysfunction with aspiration
  • failure to thrive

INVESTIGATIONS:

1. Imaging Studies

1. Fluoroesophagraphy (Barium Swallow)

  • to show severely disordered esophageal motion +/- GE reflux

2. Chest X-Ray

  • aspiration pneumonias, bronchiectasis

MANAGEMENT:

1. Supportive

  • no treatment for underlying disorder
  • multidisciplinary approach
    • Paediatrics, Neurology, Respirology, ENT, Gastroenterology

2. Surgical

  • G- or J-tube placement for feeding difficulties
  • hypospadias repair

3. Prognosis

  • normal life span

 

 

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