Neu-Laxova syndrome

Neu-Laxova Syndrome Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe congenital abnormalities. It is named after the researchers who first described it, Edith L. Neu and Renata Laxova.

Clinical Features

Neu-Laxova syndrome presents with a range of severe clinical features, including:

• Severe intrauterine growth restriction (IUGR): Affected infants are significantly smaller than expected for their gestational age.
• Microcephaly: A condition where the head circumference is smaller than normal because the brain has not developed properly.
• Severe central nervous system (CNS) malformations: These can include lissencephaly, hydrocephalus, and agenesis of the corpus callosum.
• Facial dysmorphism: Characteristic facial features such as proptosis (bulging eyes), a flat nose, and micrognathia (small jaw).
• Ichthyosis: A skin condition characterized by dry, scaly skin.
• Limb abnormalities: Such as syndactyly (fused fingers or toes) and limb contractures.

Genetics

Neu-Laxova syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The specific genetic mutations associated with Neu-Laxova syndrome have been identified in the PHGDH gene, which is involved in the biosynthesis of the amino acid serine.

Diagnosis

Diagnosis of Neu-Laxova syndrome is typically based on clinical features and can be confirmed by genetic testing. Prenatal diagnosis is possible through ultrasound findings and genetic testing if there is a known family history.

Prognosis

The prognosis for individuals with Neu-Laxova syndrome is poor. Most affected infants are stillborn or die shortly after birth due to the severe malformations and complications associated with the syndrome.

Management

There is no cure for Neu-Laxova syndrome, and management is primarily supportive. This may include palliative care and addressing specific symptoms or complications as they arise.

Research

Research into Neu-Laxova syndrome is ongoing, with studies focusing on understanding the genetic basis of the disorder and potential therapeutic approaches.

See Also

• Lissencephaly
• Hydrocephalus
• Ichthyosis
• Neu, E. L., & Laxova, R. (1971). "A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings." *American Journal of Diseases of Children*.
• Smith, D. W., & Jones, K. L. (1982). "Recognizable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects."

NIH genetic and rare disease info

• NIH info on Neu-Laxova syndrome

Neu-Laxova syndrome is a rare disease.