Zadik–barak–levin Syndrome

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Retrieved
2021-01-18
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Zadik–Barak–Levin syndrome (ZBLS) is a congenital disorder in humans. Presenting conditions include primary hypothyroidism, cleft palate, hypodontia, and ectodermal dysplasia. It is the result of an embryonic defect in the mesodermal-ectodermal midline development.

Signs and symptoms

  • anodontia/oligodontia—no teeth or fewer teeth than normal
  • cleft palate
  • depressed nasal bridge
  • dry skin
  • ectopic/agenesis/hypoplastic thyroid
  • epibulbar dermoid
  • frontal bossing
  • hypertelorism
  • hypothyroidy
  • lordosis
  • macroglossia
  • microcephaly
  • micrognatia/retrognatia—small or recessed jaw(s)
  • polyhydramnios
  • short stature/dwarfism
  • sparse/absent scalp hair(generalized)
  • squint/paresis of ocular muscles
  • umbilical hernia

Diagnosis

Management