Kabuki Syndrome Endocrinology Clinic

Kabuki syndrome is a genetic condition that affects many different systems in the body, including the endocrine system. Features vary in number and severity 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 and Diabetes has created the Kabuki Syndrome Endocrinology Clinic. The clinic is held once a month on Mondays in the Buerger Center for Advanced Pediatric Care, seventh floor.

What to expect

Patients will be seen by endocrinologist Amanda Ackermann, MD, PhD or Heather McKnight-Menci, MSN, BSN, BA, CRNP during each appointment to assess for and manage endocrine disorders associated with Kabuki syndrome, such as poor growth and hypoglycemia. Social work and nurse coordinators are also available to help families as needed. Labs might be part of the visit, so if your child needs a referral to come to the clinic, please obtain a referral for lab work as well.

Children are usually followed in the clinic every three months.

New patients and follow up appointments

Families who have not been treated at CHOP before are welcome to attend the clinic. 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.