Patients of Hajdu-Cheney syndrome

  • Patient Serial No - 1
  • Age:

    15

    Sex:

    female

    Location:

    dhaka

    Clinical Features:

    Pain in multiple joints. Progressive shortening of all fingers of the hands. Distinct facial features include coarse facial features, frontal bossing, midfacial flattening, slightly anteverted nostrils, long filtrum, low set ears, micrognathia, and prominent occiput. Severe low back pain. Gradual shortening and widening of fingers with some nail changes, making it difficult to grip objects.

    treatement and management:

    Supportive care to manage symptoms such as pain relief and physical therapy. Orthotic devices or bracing to provide support to affected joints. Surgery to address complications such as spinal cord compression or skeletal abnormalities. Regular monitoring and imaging to assess disease progression and detect potential complications. Consultation with multiple specialists, such as orthopedic surgeons, geneticists, and endocrinologists, to tailor treatment to the individual patient's needs.