Search Results 11-20 of 12621 for waardenburg syndrome

  1. Scientists unravel genetic mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide

    ... syndrome. Symptoms of the disorder range from speech and motor impairment to behavioral abnormalities, intellectual disability and distinctive facial features.

  2. DiGeorge syndrome (22q11.2 deletion syndrome) - Symptoms and causes - Mayo Clinic

    This condition is due to missing part of chromosome 22. It may cause heart issues, thyroid problems, cleft palate, lower immunity and other health problems.

  3. Bardet-Biedl syndrome (BBS) - Symptoms and causes - Mayo Clinic

    This rare genetic condition causes weight gain, extra fingers or toes, kidney conditions, vision loss, and changes in development.

  4. Von Willebrand disease - Symptoms and causes - Mayo Clinic

    Learn more about the symptoms, causes, diagnosis, treatment of this inherited bleeding disorder in which blood doesn't clot well.

  5. Eisenmenger syndrome - Symptoms and causes - Mayo Clinic

    This complication of an unrepaired congenital heart defect needs to be watched closely. Learn how treatment can help manage symptoms.

  6. Noonan syndrome - Symptoms and causes - Mayo Clinic

    This genetic condition stops typical development in parts of the body. It may include unusual facial features, short height, heart problems or other issues.

  7. Brugada syndrome - Doctors and departments - Mayo Clinic

    ... syndrome. Through the Sudden Death Genomics Laboratory and Cardiovascular Research Center, investigators are studying disease-causing genes, identifying new ...

  8. Brugada syndrome - Doctors and departments - Mayo Clinic

    ... syndrome. Through the Sudden Death Genomics Laboratory and Cardiovascular Research Center, investigators are studying disease-causing genes, identifying new ...

  9. Turner syndrome - Symptoms and causes - Mayo Clinic

    Turner syndrome affects only females as the result of a missing or partially missing X chromosome, causing a variety of medical and developmental problems.

  10. Brugada syndrome - Doctors and departments - Mayo Clinic

    ... syndrome. Through the Sudden Death Genomics Laboratory and Cardiovascular Research Center, investigators are studying disease-causing genes, identifying new ...