Abstract

Neu-Laxova Syndrome (NLS) is a rare genetic disorder that is inherited as an autosomal recessive trait. NLS is associated with distinctive prenatal abnormalities. These may include severe growth retardation (intrauterine growth retardation), excess fluid in the thin-walled membrane (amniotic sac) surrounding the fetus during pregnancy (polyhydramnios); abnormally reduced fetal movements; a short umbilical cord; and an abnormally small placenta (the placenta is an organ in the uterus that joins the blood supplies of the mother and the developing fetus). Babies with NLS usually have abnormally low birth weight and height, as well as a distinctly small head size (microcephaly). Additional abnormalities of the head and face (craniofacial region) are also usually present, resulting in a characteristic appearance. NLS is transmitted as an autosomal recessive trait. Human traits, including classic genetic diseases, are the product of the interaction of two genes, one inherited from the father and one from the mother. In recessive disorders, the disease does not appear unless the individual inherits the same defective gene for the same trait from each parent.

Keywords:Neu-Laxova Syndrome (NLS); Microcephaly; Craniofacial region; Idiopathic disease