Neu-Laxova syndrome
ORPHA:2671· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, severe microcephaly, intrauterine growth restriction (IUGR), joint contractures, edema, cataracts and morphological central nervous system (CNS) abnormalities which results from distinct enzymatic deficiencies in the serine biosynthesis pathway. It is usually lethal at birth.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal