Neu-Laxova syndrome
MeSH: C536405ORPHA: 2671
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Neu-Laxova syndrome, sourced from HPO and Orphanet clinical annotations.
PachygyriaMicrocephalySloping foreheadIntrauterine growth retardationIchthyosisThick vermilion borderAbnormal nervous system morphologyLack of skin elasticityAmbiguous genitaliaHypogonadismAbnormality of the mouthTrismusEverted lower lip vermilionAbnormality of the philtrumHypertelorismMacrotiaDepressed nasal ridgeProptosisAbnormality of the skinLarge handsDandy-Walker malformationCerebellar hypoplasiaAbsent septum pellucidumLissencephalyFlexion contractureAplasia/Hypoplasia involving the skeletal musculatureDecreased fetal movementPolyhydramniosBroad footPolymicrogyriaOpisthotonusAbnormality of neuronal migrationAbnormal cerebellar vermis morphologyAbnormal cortical gyrationSkeletal muscle atrophyExternal genital hypoplasiaMuscle spasmMuscular dystrophyCleft palateSubmucous cleft hard palateBifid uvulaProminent occiputRetrognathiaMicrognathiaAbnormal eyelid morphologyAbnormal eyelash morphologyCataractAbnormal nasolacrimal system morphologyOsteopeniaOsteoporosisPterygiumAbnormal hair morphologyPulmonary hypoplasiaVentriculomegalySpina bifidaCerebral calcificationScoliosisRicketsOsteomalaciaArthrogryposis multiplex congenitaMicromeliaAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C536405Orphanet Code
ORPHA:2671Neu-Laxova syndrome
| MeSH | C536405 |
| Orphanet | ORPHA:2671 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO