Living with Neu-Laxova syndrome
A genetic condition seen before birth that affects many parts of the body, with slow growth, a small head, and distinct facial features.
Understanding Neu-Laxova syndrome
Babies usually grow poorly during pregnancy and are small at birth. They may have a small head, sloping forehead, widely spaced eyes, extra fluid (edema) in the hands and feet, brain differences, and stiff muscles. Other birth differences can affect the arms, legs, skin, genitals, kidneys, and heart. Not every baby has every sign. It can be diagnosed during pregnancy by ultrasound, or after birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Brain differences
- Widely spaced, bulging eyes
- Swelling of the hands and feet
- Skin differences
- Ambiguous genitalia
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation and Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
NLS is caused by changes in one of three genes: PHGDH, PSAT1, or PSPH. The changes cause too little L-serine (an amino acid) to be made. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 3-phosphoglycerate dehydrogenase deficiency neonatal form; nls; nls - neu-laxova syndrome
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neu-Laxova syndrome.
Explore research for Neu-Laxova syndrome
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