Learn About Neu Laxova Syndrome

What is the definition of Neu Laxova Syndrome?
Neu Laxova syndrome (NLS) is a genetic disorder affecting many parts of the body. Babies born with NLS usually grow poorly during pregnancy (intrauterine growth restriction). At birth, they may be small (low birth weight and short in length) and their facial features are usually different and distinct. The babies may have a small head (microcephaly), sloping forehead, and widely spaced eyes (hypertelorism). Babies with NLS may also have extra fluid (edema) in their hands and feet, brain abnormalities, and rigid, stiff muscles. Other birth defects may affect the baby's arms, legs, skin, genitals, kidneys, and heart. Not every baby with NLS will have every sign or symptom of NLS. Neu Laxova syndrome (NLS) is caused by changess in one of three different genes, PHGDH, PSAT1, PSPH. The genetic changes cause too little L-serine (an amino acid) to be made. There must be a genetic change in both copies of one of these genes, which means NLS is inherited in an autosomal recessive manner. NLS can be diagnosed both prenatally by an ultrasound or after birth. The diagnosis is suspected by signs and symptoms, but may be confirmed by genetic testing (prenatally by chorionic villi sampling (CVS) or amniocentesis; after birth by genetic blood test).
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What are the alternative names for Neu Laxova Syndrome?
  • Neu Laxova syndrome
  • 3-phosphoglycerate dehydrogenase deficiency, neonatal form
  • NLS
  • Neu-Laxova syndrome
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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