What Is Branchiooculofacial Syndrome?
Source: Genetic and Rare Diseases (GARD) Information Center
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Branchiooculofacial Syndrome
Branchio-Oculo-Facial Syndrome; BOFS Syndrome
Branchiooculofacial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.
Chromosomes
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Source: Genetic and Rare Diseases (GARD) Information Center
Source: Genetic and Rare Diseases (GARD) Information Center
Source: Genetic and Rare Diseases (GARD) Information Center
BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome.
Source: Genetic and Rare Diseases (GARD) Information Center
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