Neu Laxova Syndrome
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Neu Laxova Syndrome Overview

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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
Referral may be required
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 9 other conditions, according to our data. His clinical expertise encompasses MELAS Syndrome, Neu Laxova Syndrome, Primary Carnitine Deficiency, and Microcephaly.

Experienced in Neu Laxova Syndrome
Experienced in Neu Laxova Syndrome
Referral may be required
Before you request

Indian River Health Services Inc

3555 10th Ct, Suite 200a, 
Vero Beach, FL 
772-563-4673
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of Neu Laxova Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.

 
 
 
 
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Experienced in Neu Laxova Syndrome
Dr. Alan B. Chelius
Family Medicine
Experienced in Neu Laxova Syndrome
Dr. Alan B. Chelius
Family Medicine
Before you request

Reading Hospital

420 South 5th Avenue, 
West Reading, PA 
484-628-8000
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of Neu Laxova Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine. Dr. Chelius is currently accepting new patients.

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