Preferred Label : Neu-Laxova syndrome;
ICD-11 definition : Neu-Laxova syndrome is a rare, multiple malformation syndrome characterised by severe
intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead,
severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous
system (CNS) defects are present: lissencephaly type III, hypoplastic cerebellum and
brainstem, enlarged ventricles, and sometimes intracerebral calcifications, Dandy-Walker
anomaly or agenesis of the corpus callosum.;
Origin ID : 893358230;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Neu-Laxova syndrome is a rare, multiple malformation syndrome characterised by severe
intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead,
severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous
system (CNS) defects are present: lissencephaly type III, hypoplastic cerebellum and
brainstem, enlarged ventricles, and sometimes intracerebral calcifications, Dandy-Walker
anomaly or agenesis of the corpus callosum.
