Neu Laxova Syndrome
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Neu Laxova Syndrome Overview

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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?

Elite in Neu Laxova Syndrome

Dr. Ayman W. El-Hattab

Medical Genetics | Pediatrics

Elite in Neu Laxova Syndrome

Dr. Ayman W. El-Hattab

Medical Genetics | Pediatrics

402 N Keene St, Ste 101,

Columbia, MO

573-882-6921

Languages Spoken:

English

Ayman El-Hattab is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Columbia, Missouri. Dr. El-Hattab is rated as an Elite provider by MediFind in the treatment of Neu Laxova Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses MELAS Syndrome, Neu Laxova Syndrome, Primary Carnitine Deficiency, and Microcephaly.

Advanced in Neu Laxova Syndrome

Dr. Alvaro H. Russi

Pediatrics

Advanced in Neu Laxova Syndrome

Dr. Alvaro H. Russi

Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd,

Johnson City, TN

423-439-7320

Languages Spoken:

English

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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Neu Laxova Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

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Experienced in Neu Laxova Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Experienced in Neu Laxova Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C,

Charlotte, NC

704-381-8800

Languages Spoken:

English

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Accepting New Patients

Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Neu Laxova Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.