Desmosterolosis
MeSH: C566555ORPHA: 35107
Overview
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol
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 Desmosterolosis, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsPachygyriaSeizureVentriculomegalyStatus epilepticusShort noseDepressed nasal bridgeLarge earlobeAmbiguous genitaliaRenal agenesisHydrocephalusMacrocephalyEpicanthusDownslanted palpebral fissuresLissencephalyPatent ductus arteriosusSplenomegalyMetatarsus adductusTalipesFrontal bossingPolymicrogyriaAbnormality of neuronal migrationAbnormal cortical gyrationIntestinal malrotationCleft palateSubmucous cleft hard palateBifid uvulaMicrocephalyRetrognathiaMicrognathiaIntellectual disabilitySpasticityAgenesis of corpus callosumHypertoniaAbsent septum pellucidumFailure to thriveGrowth delayIntrauterine growth retardationRigiditySevere short statureMuscle stiffnessFeeding difficultiesNarrow mouthAbnormal earlobe morphologyAbnormality of the noseLow-set earsStrabismusNystagmusMicromeliaDermal atrophyAplasia/Hypoplasia of the skinRenal hypoplasia/aplasiaAnomalous pulmonary venous returnIncreased bone mineral densityOsteopetrosisProminent forehead
Classification & Codes
MeSH Code
C566555Orphanet Code
ORPHA:35107Desmosterolosis
| MeSH | C566555 |
| Orphanet | ORPHA:35107 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO