PAICS deficiency

Definition

A rare disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.