Catalog

CATCH 22 phenotype

LD44.N0

Link to WHO Definition

CATCH 22 phenotype – http://id.who.int/icd/entity/1868156761

Monosomy 22q11 (DiGeorge Velocardiofacial syndrome, DGS/VCF) syndrome is a chromosomal anomaly characterised by the association of several variable malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal heart defects, a subtle but characteristic facial dysmorphism, cleft palate or velar insufficiency, and learning difficulties.

Parents