PAICS deficiency
PAICS deficiency
Definition
An inborn 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.
Also known as phosphoribosylaminoimidazole carboxylase deficiency — per MONDO