Neu-Laxova syndrome
MONDO:0000179Mondo
Findings
No curated finding names Neu-Laxova syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0000179), read 2026-09-29. CC BY 4.0.
Features
62 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal nervous system morphologyHPOHP:0012639
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Lack of skin elasticityHPOHP:0100679
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Sloping foreheadHPOHP:0000340
- Very frequent (80% to 99% of cases)
- Thick vermilion borderHPOHP:0012471
- Very frequent (80% to 99% of cases)
- Abnormal cerebellar vermis morphologyHPOHP:0002334
- Frequent (30% to 79% of cases)
- Abnormal cortical gyrationHPOHP:0002536
- Frequent (30% to 79% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Frequent (30% to 79% of cases)
- Abnormality of the mouthHPOHP:0000153
- Frequent (30% to 79% of cases)
- Abnormality of the philtrumHPOHP:0000288
- Frequent (30% to 79% of cases)
Show the remaining 50
- Abnormality of the skinHPOHP:0000951
- Frequent (30% to 79% of cases)
- Absent septum pellucidumHPOHP:0001331
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia involving the skeletal musculatureHPOHP:0001460
- Frequent (30% to 79% of cases)
- Broad footHPOHP:0001769
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)