Kousseff syndrome
ORPHA:2351· ICD-10 Q87.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal