Tag: facial features

  • TCOF1

    TCOF1: Definition and Description of TCOF1: TCOF1, or Treacher Collins Syndrome, is a genetic disorder characterized by craniofacial abnormalities. This condition arises due to mutations in the TCOF1 gene, which is critical for the development of bones and tissues in the face and skull. Individuals with TCOF1 may exhibit features such as underdeveloped cheekbones, a…

  • Apert Syndrome

    Apert Syndrome Definition and Description of Apert Syndrome Apert Syndrome is a congenital disorder characterized by the premature fusion of certain skull bones, known as craniosynostosis. This condition affects the development of the skull, which can lead to an abnormal head shape and facial features. Individuals with Apert Syndrome may also experience fusion of fingers…