progeria
MeSH: D011371ORPHA: 7401 Treatment Available
Overview
genetic disorder that causes early aging
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| lonafarnib Orphan | Oral capsules, 50mg and 75mg | FDA Approved, EMA Approved | 5 | 21d |
Clinical Presentation
Signs and symptoms associated with progeria, sourced from HPO and Orphanet clinical annotations.
Narrow mouthThin vermilion borderMicrognathiaConductive hearing impairmentSevere failure to thriveProminent umbilicusWeight lossProminent superficial blood vesselsAbsence of subcutaneous fatPubertal developmental failure in femalesGeneralized abnormality of skinPremature skin wrinklingHypoplastic male external genitaliaFemale hypogonadismShort lingual frenulumHigh palateRetrognathiaNarrow nasal ridgeAbnormal nasal tip morphologyShallow orbitsInsulin resistanceLimitation of joint mobilityAbnormally high-pitched voiceAbnormal mitral valve morphologyAbnormal aortic valve morphologyDystrophic toenailPatchy alopeciaShuffling gaitAtherosclerosisCoxa valgaHip dislocationExertional dyspneaDecreased serum leptinRelative macrocephalyCraniofacial disproportionAlopecia totalisDystrophic fingernailsLow-frequency sensorineural hearing impairmentAnkyloglossiaNarrow nasal tipDelayed menarcheLeft ventricular diastolic dysfunctionLack of skin elasticityShort chinConvex nasal ridgeHypodontiaDental crowdingDelayed eruption of teethAbnormal thorax morphologyHypertensionShort claviclesProgressive clavicular acroosteolysisCyanosisHypermelanotic maculeStrokeJoint stiffnessAortic valve stenosisMitral regurgitationMyocardial infarctionAortic regurgitationVentricular hypertrophyMitral stenosisHigh-frequency sensorineural hearing impairmentIntracranial hemorrhageAbsent eyebrowTransient ischemic attackOsteoarthritisUpper airway obstructionDermal atrophyReduced bone mineral densityAortic valve calcificationMitral valve calcificationLimited wrist movementPersistence of primary teethLimited shoulder movementCorneal opacityLimited hip movementOsteolytic defects of the distal phalanges of the handProminent ear helixLimitation of movement at anklesEctopic calcificationAvascular necrosisImpacted toothLoss of eyelashesCarotid artery occlusionNocturnal lagophthalmosHip painRaynaud phenomenonPapuleAngina pectorisPulmonary arterial hypertensionCorneal ulcerationLeft ventricular systolic dysfunction
Classification & Codes
MeSH Code
D011371Orphanet Code
ORPHA:740progeria
| MeSH | D011371 |
| Orphanet | ORPHA:740 |
| Treatments | 1 drug(s) |
| Symptoms on record | 93 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO