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.

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

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.