Branchio-oculo-facial syndrome

Branchio-oculo-facial 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. "Branchio ...1

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Symptoms List: Branchio-oculo-facial syndrome

Symptoms and clinical features may include:2 Clinical Features of Branchio-oculo-facial syndrome:

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Genetics of Branchio-oculo-facial syndrome

Genetic Changes: Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2-alpha). As its name suggests, this protein is a transcription ...3

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ branchio-oculo-facial-syndrome
  2. Source: Human Phenotype Ontology
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ branchio-oculo-facial-syndrome

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