CHKD Is Here to Help

Coffin-Siris syndrome – also known as CSS or fifth-digit syndrome – is caused by pathogenic variants in genes in the BAF complex (sometimes called BAFopathies). Features may include shortened fifth digits, phalanges or nails to the hands or feet, sparse scalp hair, excessive body hair growth, varying degrees of developmental delay, and short stature.

Additionally, individuals may have feeding difficulties, congenital heart disease, seizures, hearing loss, or endocrine abnormalities.

Dr. Samantha Vergano has established an Institutional Review Board-approved clinical registry for individuals with a molecular diagnosis of Coffin-Siris syndrome and related disorders. As of 2022, there are over 400 individuals in the registry. She also is available for evaluation of individuals with this diagnosis in her medical genetics clinic. Over 100 individuals with CSS have been evaluated at CHKD since 2017. Both the CSS Registry and the CHKD Clinic are endorsed by the Coffin-Siris Syndrome Foundation.

Insurance and Referral Information

All patients must have a referral from a  primary care physician before they call to make an appointment. 

If your insurance is an HMO, you must also:

  • Make sure your referral has not expired. Many are good for only 90 days, so check yours before scheduling an appointment. If your referral has expired, call your  primary care physician and explain your situation. In most cases, your primary care physician will provide a new or extended referral.
  • Bring the referral with you to the appointment. If you do not have a referral, or if the referral has expired, your HMO will not pay for your appointment.

We offer in-depth information about insurance in our   Billing and Insurance section. 

Before an appointment, patients are asked to:

  • Obtain all medical records on the patient being evaluated.
  • Obtain a valid insurance referral.
  • Complete a new-patient packet. A packet will be mailed to you once the appointment has been scheduled.
  • Gather family photographs for the initial visit.
  • Arrive 15 minutes before your appointment time to complete the registration process. Please remember to bring a valid insurance card, insurance referral (if required), new-patient packet, and family photos.
  • If you are unable to keep your appointment for any reason, we ask that you call the office to cancel at least two days in advance. This will allow other patients to see our team of specialists.