progeria-short stature-pigmented nevi syndrome
MeSH: C536422ORPHA: 2959
Overview
Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat
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 progeria-short stature-pigmented nevi syndrome, sourced from HPO and Orphanet clinical annotations.
HypospadiasMicropenisBifid uvulaMicrocephalyBird-like faciesMicrognathiaProgressive sensorineural hearing impairmentCataractProgressive visual lossBand keratopathyHypodontiaDental malocclusionHypergonadotropic hypogonadismDelayed pubertyInsulin-resistant diabetes mellitusOsteopeniaBrachydactylyHepatic steatosisSmall for gestational ageSelective tooth agenesisAlopeciaAbnormally high-pitched voiceGastroesophageal refluxBroad-based gaitLow posterior hairlineSleep disturbanceImmunodeficiencyMultiple joint contracturesElevated circulating hepatic transaminase concentrationParesthesiaAbnormal muscle toneShort statureRecurrent viral infectionsSupraventricular arrhythmiaLack of facial subcutaneous fatProgeroid facial appearanceDecreased total T cell countHyperpigmented neviPrematurely aged appearancePremature ovarian insufficiencyDecreased serum estradiolShort distal phalanx of fingerCentral sleep apneaAbnormal thalamus morphologyFragile teethDecreased serum testosterone concentrationCognitive impairmentInsomniaMild intellectual disabilityMotor delayMicrocytic anemiaEpisodic vomitingNeoplasmNeoplasm of the pancreasThoracic scoliosisGeneralized osteoporosis
Classification & Codes
MeSH Code
C536422Orphanet Code
ORPHA:2959progeria-short stature-pigmented nevi syndrome
| MeSH | C536422 |
| Orphanet | ORPHA:2959 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO