Recombinant 8 syndrome
ORPHA:96167· ICD-10 Q99.8
Definition
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
- Prevalence
- Unknown
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal