Tag: craniofacial abnormalities

  • 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…

  • KTW Syndrome

    KTW Syndrome Definition and Description of KTW Syndrome KTW Syndrome is a rare genetic disorder characterized by notable craniofacial abnormalities, growth deficiencies, and various systemic issues. The acronym “KTW” refers to the surnames of the researchers who first described the condition. Patients with KTW Syndrome may exhibit distinctive features, including low-set ears, a broad nose,…