Kabuki syndrome is a genetic condition that affects many different systems in the body, including the endocrine system. Features vary from child to child and may include: cleft palate, congenital heart disease, skeletal problems, eye anomalies, immune defects, developmental delays, poor growth and hypoglycemia (low blood sugar). Diagnosis of Kabuki syndrome is usually based on clinical features and genetic testing.

To meet the special endocrinological needs of babies and children with Kabuki syndrome, the Division of Endocrinology participates in a multidisciplinary Kabuki Syndrome Clinic.

What to expect during your child's appointment

Our clinic is located within Endocrinology on the seventh floor of the Buerger Center for Advanced Pediatric Care, at 3500 Civic Center Blvd., Philadelphia, PA, on the Raymond G. Perelman Campus.

Patients will be seen by an endocrinologist, along with a nurse practitioner, nutritionist, geneticist and gastroenterologist. Social workers and nurse coordinators are also available to help families as needed.

When you arrive for your visit, you will check in at the welcome desk in the Buerger Center lobby where you’ll receive a visitor badge. We encourage you to arrive at least 15 minutes prior to your scheduled appointment time to allow enough time to park and get checked in.

You’ll be directed to the seventh floor, where you will check in with the medical team at a self-check-in kiosk or one of our patient service representatives.

Once escorted to an exam room, you will not need to move around — all the specialists planned as part of your appointment will come to you.

If you check your child’s blood sugars at home, please bring your child’s glucometer to the visit with you.

Your child may need lab work, please bring any necessary referrals.

New patients and follow up appointments

To schedule a new patient or follow up appointment, call 215-590-3174, pressing option #1, and request assistance from the hypoglycemia nurse coordinator. You will need to fill out a Welcome Form in MyCHOP and send your child’s medical records to the HI Center prior to your child’s first appointment. Records can be faxed to 215-590-3053. We will provide more details on the intake process for new patients when you are scheduling your appointment.