Branchio oculo facial
Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features.
Branchio Oculo Facial Syndrome - NORD (National Organization for Rare Disorders)
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Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of , only about 50 cases of BOFS had been .
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Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect.
Description:Any baby born with an apparent repair of a cleft lip pseudocleft combined with a long space between the nose and the lips philtrum , height and weight usually less than the fifth percentile, disorders of the eye, etc. Diagnosis Diagnosis is usually made during a clinical examination, based upon the presence of several signs or symptoms. Kidney malformations and dysfunction have been documented. Often, affected individuals may have burn-like lesions behind the ears.