📂 Diseases
branchiooculofacial syndrome — Definition
Brankiookülofasiyal sendrom / branchiooculofacial syndrome
Brankiookulofal syndrome is a rare genetic disease, characterized by developmental anomalies of first and second brankal arcus. The syndrome manifests itself with findings such as fistulas or cysts before the ear, eye anomalies (e.g. microphalmi, cataract) and facial asymmetry. Autozomal dominant inheritance exhibits paterni and is associated with mutations in TFAP2A gene.
Frequently Asked Questions
❓ What is Brankiookülofasiyal sendrom?
Brankiookülofasiyal sendrom; brankiookulofal syndrome is a rare genetic disease, characterized by developmental anomalies of first and second brankal arcus. The syndrome manifests itself with findings such as fistulas or cysts before the ear, eye anomalies (e.g. microphalmi, cataract) and facial asymmetry. Autozomal dominant inheritance exhibits paterni and is associated with mutations in TFAP2A gene.
❓ What is branchiooculofacial syndrome in Turkish?
The Turkish equivalent of "branchiooculofacial syndrome" is Brankiookülofasiyal sendrom.
❓ Which medical field is Brankiookülofasiyal sendrom related to?
This term belongs to the Diseases category.