Branchio oculo facial



The ears are malformed, typically low-set and posteriorly rotated. Genetic counseling is recommended for the patients and their families for reproductive health. Clefts of the lip or palate result when the development of the face or mouth in an embryo is incomplete.



Branchio oculo facial
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Branchio-oculo-facial syndrome

The abnormal gene can be inherited from either parent or can be the result of a mutated changed gene in the affected individual. Alone we are rare. Importantly, the skin defects should not be treated with simple cauterization.

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Branchio oculo facial
Branchio oculo facial

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Although molecular genetic testing is useful to confirm the clinical diagnosis, the classic phenotype should not be confused with other syndromes. The branchial arches are structures in the developing embryo that give rise to certain tissues in the neck and facial area. Additional features include low birth branchio oculo facial, growth delay, learning challenges, intellectual disability and mental health issues. Affected Populations BOFS is a very rare disorder that apparently branchio oculo facial males and females in equal numbers. The nose is malformed with a broad bridge and flattened tip.

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