Neu Laxova syndrome
Overview
A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage
Symptoms
The list of signs and symptoms mentioned in various sources for Neu-Laxova Syndrome includes the 48 symptoms listed below: * Growth deficiency * Small head * Lissencephaly * Absence of corpus callosum * Hypoplasia of cerebrum * Hypoplasia of cerebellum pons * Lack of sense of smell * Sloping forehead * Widely spaced eyes * Protruding eyes * Absent eyelids * Flattened nose * Round mouth * Gaping mouth * Thick lips * Everted lips * Small lower jaw * Large ears * Short neck * Yellow subcutaneous tissue * Thin skin * Transparent skin * Scaly skin * Edema * Ichthyosis * Short limbs * Syndactyly of fingers * Syndactyly of toes * Puffy hands * Puffy feet * Overlapping fingers * Overlapping toes * Calcaneovalgus * Vertical talus * Flexion contractures of main joints * Pterygium of main joints * Poorly mineralized bones * Cataracts * Small eye * Persistent embryonic eye structures * Absent eyelashes * Absent head hair * Muscular atrophy * Hypertrophy of fatty tissue * Underdeveloped genitals * Polyhydramnios * Short umbilical cord * Small placenta
Diagnosis
Genetic counseling and early-serial ultrasound examination should be performed at risk families because of the autosomal recessive mode of inheritance