Smith-Lemli-Opitz syndrome
MeSH: D019082ORPHA: 818
Overview
an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase
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 Smith-Lemli-Opitz syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyMicrognathiaWide nasal bridgeAnteverted naresIntellectual disabilityHypotoniaGlobal developmental delayGrowth delayGastroesophageal refluxShort stature2-3 toe syndactylyAbnormal dental morphologyAbnormal dermatoglyphicsFeeding difficulties in infancyElevated circulating 7-dehydrocholesterol concentrationIncreased nuchal translucencyCryptorchidismHypospadiasAmbiguous genitaliaWide mouthCleft palateGingival overgrowthLong philtrumShort neckPtosisAutismCutis marmorataCutaneous photosensitivityFacial capillary hemangiomaPostaxial hand polydactylyExcessive daytime somnolenceIntrauterine growth retardationPolyhydramniosAbnormality of the larynxVentricular septal defectAtrial septal defectPostaxial foot polydactylyPulmonary hypoplasiaAbnormal lung lobationVentriculomegalySleep disturbanceRecurrent infectionsTracheal stenosisHip dislocationBiparietal narrowingAbnormal metacarpal morphologyWide intermamillary distanceAtrioventricular canal defectAttention deficit hyperactivity disorderAplasia/Hypoplasia of the cerebellumClitoral hypertrophyHypoplasia of penisProximal placement of thumbAbnormal cardiovascular system morphologySelf-injurious behaviorMulticystic kidney dysplasiaUreteropelvic junction obstructionHydronephrosisMicroglossiaEpicanthusHypertelorismSensorineural hearing impairmentChoanal atresiaStrabismusDownslanted palpebral fissuresAbnormal eyelash morphologyGlaucomaCataractProptosisUpslanted palpebral fissureIris colobomaNystagmusSclerocorneaOptic atrophyAbnormal dental enamel morphologyAbnormal rib morphologyCongenital diaphragmatic herniaBrachydactylySplit handSeizureHypertoniaHoloprosencephalyGastroschisisPatent ductus arteriosusTalipes calcaneovalgusPyloric stenosisAganglionic megacolonScoliosisKyphosisMesomeliaAbnormal form of the vertebral bodiesAbnormality of the gallbladderHypopigmentation of hairFinger syndactylyAdvanced eruption of teethAplasia/Hypoplasia of the radiusAplasia/Hypoplasia of the corpus callosumAplasia/Hypoplasia affecting the eyeRenal hypoplasia/aplasiaRhizomeliaUlnar deviation of fingerTooth agenesisBifid tongueSupernumerary toothAbnormal localization of kidneyPosteriorly rotated ears
Classification & Codes
MeSH Code
D019082Orphanet Code
ORPHA:818Smith-Lemli-Opitz syndrome
| MeSH | D019082 |
| Orphanet | ORPHA:818 |
| Treatments | 0 drug(s) |
| Symptoms on record | 106 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO