Neu-Laxova syndrome (Q88650): Difference between revisions
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Síndrome de Neu-Laxova é uma síndrome rara de malformação múltipla caracterizada por grave retardo de crescimento intrauterino (RCIU), microcefalia grave com testa inclinada, ictiose grave (tipo bebê colódio) e dismorfismo facial. Defeitos graves do sistema nervoso central (SNC) estão presentes: lissencefalia tipo III, cerebelo e tronco encefálico hipoplásicos, ventrículos aumentados e, às vezes, calcificações intracerebrais, anomalia de Dandy-Walker ou agenesia do corpo caloso. | |||
| description / en | description / en | ||
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. | |||
Revision as of 14:58, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_893358230 |
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| English | Neu-Laxova syndrome |
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. |
