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