Skraban-Deardorff Syndrome Clinic

Katelyn is a patient of the Skraban-Deardorff Syndrome Clinic. Skraban-Deardorff syndrome is a rare genetic disorder typically caused by changes in the WDR26 gene and characterized by developmental delay, intellectual disability, seizures, neurological differences and subtle facial differences. The syndrome was discovered at Children’s Hospital of Philadelphia (CHOP) and is named for the two doctors who led the research.

Because it is such a rare disease and was discovered so recently, doctors are still learning about the most effective approaches to treatment and the long-term outlook for patients. The experts at CHOP are leaders in research on the syndrome. They share that expertise with patients and families through the Skraban-Deardorff Syndrome Clinic.

Who we are

We are a team led by the two physicians who discovered the syndrome, Drs. Skraban and Deardorff, both experts in genetics, and a genetic counselor. We coordinate with other CHOP specialists and include them in the clinic visit when appropriate.

What we do

At the Skraban-Deardorff Syndrome Clinic, doctors meet with patients and families after reviewing medical records in advance. We examine the patient and review the patient’s history.

Based on the patient’s medical history, symptoms and health issues, we make recommendations for ongoing therapy and treatment. This typically includes follow-up care with a neurologist, and may include consultation with a developmental pediatrician or other specialists. Many patients benefit from physical, occupational and/or speech therapy, and we make recommendations as to the types of therapy that may be most helpful.

If patients and families are interested, the clinic serves as an access point for enrollment in clinical research into Skraban-Deardorff syndrome.

Who we treat

The clinic is available to any patient, child or adult, who has been diagnosed with Skraban-Deardorff syndrome or who has a concerning change in the WDR26 gene identified through genetic testing. The clinic is open to patients whether or not they are already seen by a doctor within the CHOP system.

If you believe your child may benefit from the Skraban-Deardorff Syndrome Clinic, please speak with your physician about a referral to the clinic or contact us directly at WDR26@email.chop.edu.