Kousseff syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Sacral meningocele-conotruncal heart defects syndrome

A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Kousseff syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.