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.
| Zadik–Barak–Levin syndrome | |
|---|---|
| Other names | Dermoid cysts, hypothyroidism, cleft palate and hypodontia |
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
gollark: ddg! apioform
gollark: Deploy orbital bee strike.
gollark: I reformatted a 6-year-old dubious 1TB laptop disk and stuck some encrypted TAR archives on it, as well as writing some python scripts to manage them.
gollark: More, I guess. Specifically offline backups.
gollark: Also, I now have backups*!
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.
Further reading
- "Zadik Barak Levin syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 13 August 2017.
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