Kabuki Syndrome Clinic

The Kabuki Syndrome Clinic at Children’s Hospital of Philadelphia (CHOP) provides families with a child who has Kabuki syndrome one place where they can consult with all the specialists their child needs in one day. Each child receives a personalized care plan tailored to their unique needs and to help them reach their full potential. Few pediatric centers have the breath and depth of expertise in managing children with this rare genetic condition.

What is Kabuki syndrome

Kabuki syndrome is a genetic condition characterized by typical facial features, mild-to-moderate intellectual disability, growth deficiency and/or skeletal differences. It draws its name from the facial features of many affected children, which resemble the makeup used by actors in kabuki, a form of Japanese theater.

Other common symptoms of Kabuki syndrome include developmental delay, congenital heart disease, short stature, failure-to-thrive, feeding difficulties, hyperinsulinism (HI) and recurrent infections. Some symptoms are present at birth while others aren’t apparent until later. The severity of symptoms varies as well.

For most children with Kabuki syndrome, there is no previous family history. However, familial occurrence has been reported in a small number of cases.

Conditions We Treat

We treat patients with a known or suspected diagnosis of Kabuki syndrome and/or genetic variants in either of two causal genes: KMT2D or KDM6A.

Our Team

What makes our Kabuki Syndrome Clinic unique is the multidisciplinary team members who bring their specific expertise to each child.

The core team includes a clinical geneticist, genetic counselor, molecular geneticist, endocrinologist, gastroenterologist, immunologist, and nutritionist. Additional pediatric specialists join the team as needed by a particular patient.

Endocrinology

What to expect

Once you have an appointment for the clinic, you will receive an intake packet and a request for your child’s medical records, pictures and other information. After reviewing the records, we will work your family to determine what specialists are appropriate to see your child.

During your clinic visit, you will stay in one exam room while the various specialists rotate in to evaluate your child and talk with you. You’ll leave the clinic with a comprehensive, coordinate care plan that optimizes your child’s cognitive development and quality of life.

Families can expect one visit to the clinic if they live far away. If you live in the Philadelphia region, you may choose frequent follow-up appointments. Your child’s evaluation and care plan will be shared with your family’s primary care physician and any other local clinicians your child sees.