Neu–Laxova syndrome

Neu–Laxova syndrome
Other namesNeu-Povysilová syndrome; Neu syndrome; 3-phosphoglycerate dehydrogenase deficiency, neonate form
Neu–Laxova syndrome
SpecialtyMedical genetics 

Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971 and Dr. Renata Laxova in 1972 as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in medical literature.