Lathosterolosis
MeSH: C537880ORPHA: 46059
Overview
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease
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 Lathosterolosis, sourced from HPO and Orphanet clinical annotations.
Horseshoe kidneyGingival overgrowthHigh palateMicrocephalyEpicanthusFull cheeksSloping foreheadNarrow foreheadLong philtrumMicrognathiaHearing impairmentBulbous noseAnteverted naresMicrocorneaDownslanted palpebral fissuresPtosisCataractPostaxial hand polydactylySeizureHypotoniaGlobal developmental delaySpecific learning disabilityMyoclonusHepatic failureIntrahepatic cholestasisFailure to thriveIntrauterine growth retardationToe syndactylyPostaxial foot polydactylyThrombocytopeniaTalipesHepatomegalyChiari malformationMeningoceleCerebral calcificationDownturned corners of mouthShort noseBiparietal narrowingAnisopoikilocytosisProminent metopic ridgeOpacification of the corneal stromaCerebellar cortical atrophyHypoplasia of penisAbnormal platelet morphologyAbnormal thoracic spine morphology
Classification & Codes
MeSH Code
C537880Orphanet Code
ORPHA:46059Lathosterolosis
| MeSH | C537880 |
| Orphanet | ORPHA:46059 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO