Proteus syndrome
MeSH: D016715ORPHA: 744
Overview
human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels
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 Proteus syndrome, sourced from HPO and Orphanet clinical annotations.
Capillary hemangiomaIrregular hyperpigmentationAbnormal subcutaneous fat tissue distributionEpidermal nevusVascular skin abnormalityLipomaArteriovenous malformationAsymmetric growthLower limb asymmetryUpper limb asymmetryLymphangiomaDolichocephalyRound faceHypertelorismMacrotiaRib exostosesLymphedemaAbnormal lung lobationPulmonary embolismThrombophlebitisExostosis of the external auditory canalCalvarial hyperostosisGeneralized hyperkeratosisFinger syndactylyMultiple cafe-au-lait spotsLipodystrophyHamartomaVenous malformationCapillary malformationPulmonary cystPulmonary bullaVerrucous epidermal nevusBronchogenic cystVisceral angiomatosisHyperostosisCerebriform connective tissue nevusLong penisMacroorchidismEnlarged kidneyRenal cystOpen mouthMacrocephalyLong faceFacial asymmetryLow-set earsAnteverted naresAbnormality of the neckStrabismusDownslanted palpebral fissuresGlaucomaPtosisCataractProptosisMyopiaBuphthalmosChorioretinal colobomaCarious teethAbnormal dental enamel morphologyDiabetes insipidusMelanocytic nevusAbnormality of skin pigmentationThickened skinAbnormal finger morphologySubcutaneous noduleDisproportionate tall statureOvergrowthAsymmetry of the thoraxScoliosisSkeletal dysplasiaKyphosisDecreased muscle massAbnormal form of the vertebral bodiesMacrodactylyCachexiaCranial hyperostosisIntellectual disabilitySeizureCraniosynostosisJoint stiffnessAbnormal nail morphologySudden cardiac deathSplenomegalyHallux valgusGeneralized hirsutismGray matter heterotopiaNeoplasmRecurrent infectionsHip dislocationMeningiomaAbnormality of the wristMyofibrillar myopathyClinodactyly of the 5th fingerArterial thrombosisDepressed nasal bridgeAbnormal metacarpal morphologyGeneralized hyperpigmentationAbnormal retinal pigmentationCentral heterochromiaRetinal nonattachmentEnlarged polycystic ovariesRetinal hamartomaTooth agenesisThick nasal alaeSirenomeliaMetatarsus valgusThymus hyperplasiaTesticular neoplasmNarrow internal auditory canalAbnormal cardiovascular system morphologyNeoplasm of the central nervous systemNeoplasm of the thymusNeoplasm of the lungOvarian neoplasmExostosesSalivary basal cell adenoma
Classification & Codes
MeSH Code
D016715Orphanet Code
ORPHA:744Proteus syndrome
| MeSH | D016715 |
| Orphanet | ORPHA:744 |
| Treatments | 0 drug(s) |
| Symptoms on record | 115 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO