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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.
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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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