atypical Werner syndrome
ORPHA: 79474
Overview
mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population
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 atypical Werner syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal testis morphologyHypogonadismDecreased fertilityThin vermilion borderNarrow faceMicrognathiaConvex nasal ridgeDevelopmental cataractRetinal degenerationAbnormal thorax morphologyDiabetes mellitusHypertensionDelayed pubertyInsulin-resistant diabetes mellitusProgressive clavicular acroosteolysisHyperinsulinemiaSecondary amenorrheaChondrocalcinosisOsteoporosisHyperkeratosisThin skinProminent superficial veinsOsteolytic defects of the phalanges of the handLimitation of joint mobilityHip dysplasiaHepatic steatosisFailure to thriveShort statureAbnormal hair morphologyAlopeciaLaryngomalaciaAbnormality of the voiceMitral valve prolapseCongestive heart failureAortic valve stenosisCoronary artery atherosclerosisPes planusFragile nailsRocker bottom footHypertriglyceridemiaWhite forelockPremature graying of hairSparse body hairOsteosarcomaMeningiomaHyperglycemiaGlycosuriaSkeletal muscle atrophyCalf muscle hypertrophyExercise-induced myalgiaPili tortiSclerosis of hand boneShort palmDecreased body weightReduced bone mineral densityAbnormal circulating leptin concentrationAortic valve calcificationAbnormality of the pulmonary arteryPeripheral arterial stenosisAbnormal Achilles tendon morphologyPremature arteriosclerosisProgeroid facial appearanceType II diabetes mellitusPatchy hypo- and hyperpigmentationPrematurely aged appearanceSubcutaneous calcificationAbnormal retinal pigmentationAplasia/Hypoplasia of the skinNeoplasm of the skinPremature ovarian insufficiencyFasting hyperinsulinemiaIntervertebral disk degenerationGeneralized lipodystrophyRenal neoplasmAbnormal hair whorlIncreased bone mineral densityAbnormal hair quantityFinger clinodactylyNeoplasm of the breastNeoplasm of the thyroid glandNeoplasm of the lungLipoatrophyTelangiectasia of the skinOvarian neoplasmNeoplasm of the oral cavityAbnormal cerebral vascular morphologyLack of skin elasticityNeoplasm of the small intestineAplasia/Hypoplasia of the eyebrowSkin ulcer
Classification & Codes
Orphanet Code
ORPHA:79474atypical Werner syndrome
| Orphanet | ORPHA:79474 |
| Treatments | 0 drug(s) |
| Symptoms on record | 90 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO