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Zadik Barak Levin syndrome



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.

Frequent signs

  • 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

References

  • Zadik, Z. and Y. Barak, S. Levin, Z. Josephberg, J. Lustmann, J. Chemke. "Dermoid cysts, hyperthyroidism, cleft palate, and hypodontia," J. Clin. Dysmorphol., 1983 Winter, 1(4):24-7.
  • Zadik Barak Levin syndrome, About rare diseases, Orphanet.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Zadik_Barak_Levin_syndrome". A list of authors is available in Wikipedia.
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