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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).
What are the alternative names for Neu Laxova Syndrome?
  • Neu Laxova syndrome
  • 3-phosphoglycerate dehydrogenase deficiency, neonatal form
  • NLS
  • Neu-Laxova syndrome
Who are the top Neu Laxova Syndrome Local Doctors?
Leipziger Str. 44, 
Magdeburg, ST, DE 

Martin Zenker practices in Magdeburg, Germany. Zenker and is rated as an Elite expert by MediFind in the treatment of Neu Laxova Syndrome. His top areas of expertise are Neu Laxova Syndrome, RASopathies, Noonan Syndrome, and Syndactyly.

Medical Genetics | Pediatrics
Medical Genetics | Pediatrics
402 N Keene St, Ste 101, 
Columbia, MO 
Languages Spoken:
English

Ayman El-Hattab is a Medical Genetics specialist and a Pediatrics provider in Columbia, Missouri. Dr. El-Hattab and is rated as an Elite provider by MediFind in the treatment of Neu Laxova Syndrome. His top areas of expertise are MELAS Syndrome, Neu Laxova Syndrome, Primary Carnitine Deficiency, and Achalasia Microcephaly Syndrome.

 
 
 
 
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Cheng Her
Family Medicine
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a Family Medicine provider in La Crosse, Wisconsin. Dr. Her and is rated as an Advanced provider by MediFind in the treatment of Neu Laxova Syndrome. His top areas of expertise are Hypomelanosis of Ito, Familial Hypertriglyceridemia, Alstrom Syndrome, and Blepharocheilodontic Syndrome.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center