Purpose of the study:
The goal of this study is to identify genetic causes of multiple congenital anomaly (MCA) syndromes including identification of new genes important in early development.

What conditions qualify for this study?
To qualify for this study, you/your child must have congenital anomalies in two or more unrelated systems. Congenital anomaly refers to differences in the way a part of the body developed before birth.

What is involved in our research?
We will collect a saliva or blood sample for genetic testing from the affected person and family members (if possible).

Enrollment can be completed in-person or remotely via a phone/Zoom call. Enrollment takes approximately 20-30 minutes. If a genetic cause is identified, you will be informed. There is no cost to participate.

Compensation:
Participants will not be compensated for this project.

You may be eligible to participate if you meet the following criteria:

• You or a family member are affected by a multiple congenital anomaly syndrome.
• You live in the United States or Canada.

More information:

Contact:
seminagenetics@mcw.edu
(414) 955-7645

IRB Approval:
PRO00048186 (Initial study approval 11/13/2023)