Kousseff syndrome is a rare condition that is characterized by a combination of heart defects, a form of spinal defect known as myelomeningocele, and distinct facial features. The heart issues, known as conotruncal heart defects, affect the outflow tracts of the heart. The spinal defect involves a disruption in the spinal cord and surrounding tissues, while the facial differences show similarities to those seen in another condition called monosomy 22q11. This syndrome brings together several varied features in one condition. The combination of these symptoms means that care may need to address several aspects of health. This summary provides an overview based on the available definition information. More detailed information about many areas of the condition is limited at this time.

People with this condition may experience heart-related issues due to conotruncal heart defects, spinal anomalies including myelomeningocele, and noticeable facial differences or craniofacial dysmorphism. These features are the most commonly reported signs, although the specific symptoms can vary from case to case.

Information about causes, genetics, and risk factors is currently limited for this condition.