Catalog

Recombinant chromosome 8 syndrome

No MMS code

Link to WHO Definition

Recombinant chromosome 8 syndrome – http://id.who.int/icd/entity/1847411826

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 characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.