Neu–Laxova syndrome

Neu–Laxova syndrome
	File:Neu-Laxova syndrome-01.jpg
Synonyms	NLS
Pronounce	N/A
Specialty	N/A
Symptoms	Severe intrauterine growth restriction, microcephaly, prominent eyes, edema, ichthyosis, central nervous system malformations
Complications	N/A
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the PHGDH, PSAT1, or PSPH genes
Risks	Consanguinity
Diagnosis	Prenatal diagnosis, genetic testing
Differential diagnosis	Harlequin ichthyosis, Smith–Lemli–Opitz syndrome
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	Poor, often lethal in the neonatal period
Frequency	Rare
Deaths	N/A

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Neu–Laxova syndrome is a rare autosomal recessive genetic disorder characterized by severe fetal abnormalities. It was first described by Richard Neu and Renata Laxova in the early 1970s. The syndrome is often lethal, with most affected infants being stillborn or dying shortly after birth.

Clinical Features[edit]

Neu–Laxova syndrome presents with a range of severe congenital anomalies, including:

Intrauterine growth restriction
Microcephaly
Severe intellectual disability
Ichthyosis (a condition causing dry, scaly skin)
Edema (swelling due to fluid retention)
Craniofacial abnormalities such as proptosis (bulging eyes), micrognathia (small jaw), and cleft palate
Limb abnormalities including syndactyly (webbed fingers or toes) and arthrogryposis (joint contractures)

Genetics[edit]

Neu–Laxova syndrome is inherited in an autosomal recessive manner. This means that both parents must carry one copy of the mutated gene, but typically do not show symptoms themselves. The specific genetic mutations responsible for Neu–Laxova syndrome have been identified in the PHGDH gene, which is involved in the biosynthesis of the amino acid serine.

Diagnosis[edit]

Diagnosis of Neu–Laxova syndrome is primarily based on clinical features observed through prenatal ultrasound and postnatal examination. Genetic testing can confirm the diagnosis by identifying mutations in the PHGDH gene.

Management[edit]

There is no cure for Neu–Laxova syndrome, and management is primarily supportive. Prenatal diagnosis allows for early detection, and parents may be offered genetic counseling to understand the risks for future pregnancies.

Epidemiology[edit]

Neu–Laxova syndrome is extremely rare, with only a few dozen cases reported in the medical literature. The exact incidence is unknown due to the rarity of the condition.