BJÖRNSSON LABORATORY

KABUKI SYNDROME AND RELATED CONDITIONS

 We have seen a large number of patients with Kabuki syndrome in our Epigenetics and Chromatin Clinic, which we still operate at Johns Hopkins and we also see patients at the Landspitali University Hospital in Iceland.

You can schedule an appointment with Dr. Björnsson in Iceland through esd@landspitali.is or with Dr. Fahrner/Dr. Harris in Baltimore (call (410) 955-3071).

During an initial visit we make sure that all indicated diagnostic studies have been performed:

· Double check that the variant is de novo (almost all are de novo) and disease causing

· Echocardiogram to rule our aortic arch.

· Renal ultrasound to look for renal malformations.

· Examination of the hips to rule out hip dysplasia.

· Examination of the spine to rule out vertebral anomalies.

· Immune testing for low immunoglobulins and pneumococcal titers.

· Refer for an ophthalmological examination.

· Yearly hearing tests since many patients develop hearing loss during childhood.

 

   

Kids with Kabuki syndrome often look worse than they are early on and often parents will be discouraged. However, many kids do quite well as hypotonia tends to improve as patients get older.  We are believers in early intervention so we also make sure that family receives information about appropriate early intervention services, developmental delay in Kabuki syndrome and behavioral strategies. For some children we suggest neuropsychological testing which can in some cases help optimize some of the educational settings.