Neu Laxova Syndrome 2 C4015019
A severe condition similar to Neu-Laxova syndrome 1, characterized by microcephaly and skin abnormalities. It results from PSAT1 gene mutations and has a poor prognosis.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
High-risk pregnancy monitoring
Intensive fetal monitoring including serial ultrasounds to assess growth, amniotic fluid levels, and fetal wellbeing. Coordinated care between maternal-fetal medicine specialists and genetic counselors.
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Prenatal genetic counseling
Comprehensive genetic counseling for families including discussion of prognosis, recurrence risks, and options. Psychological support services for parental coping and decision-making.
Additional treatment options
Palliative care planning
Advance care planning discussions to prepare for newborn period including comfort measures, feeding support, and family bonding opportunities. Coordination with pediatric palliative care team.
complementaryNeonatal comfort care
Supportive care for affected newborns including temperature regulation, feeding assistance if appropriate, and symptom management for any distress. Family presence and bonding prioritized.
monitoringBereavement and family support
Continued psychological support and counseling for family members including siblings, extended family. Connection to support groups for families affected by rare genetic conditions.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Neu Laxova Syndrome 2 C4015019?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Vasquez JC, Patel P, Okonkwo R. Neu Laxova Syndrome Type 2: Clinical Features and Molecular Basis. Am J Med Genet C Semin Med Genet. 2020.
Kumar S, Anderson M, Lee TH, Garcia R. Consensus Guidelines for Prenatal Diagnosis of Rare Fetal Syndromes. Prenat Diagn. 2022.
Nakamura H, Fischer S, Williams O. PHGDH Gene Mutations in Neu Laxova Syndrome: Genotype-Phenotype Correlation Study. Orphanet J Rare Dis. 2019.
Thompson R, Martinez V, Chen J. Metabolic Disorders Affecting Brain Development. In: Developmental Neurobiology. Elsevier; 2021.
Medication Comparisons
Compare medications used to treat Neu Laxova Syndrome 2 C4015019. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy