congenital insensitivity to pain with anhidrosis
ORPHA: 642
Overview
rare disease
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 congenital insensitivity to pain with anhidrosis, sourced from HPO and Orphanet clinical annotations.
Self-mutilationAnhidrosisIntellectual disabilityRecurrent Staphylococcus aureus infectionsOsteomyelitisAbnormality of peripheral nerve conductionPain insensitivityImpaired temperature sensationAplasia of the sweat glandsDry skinAtypical scarring of skinSpecific learning disabilityRecurrent feverPainless fractures due to injuryNeuropathic arthropathyTrophic limb changesAbnormality of humoral immunityPremature loss of teethNail-bitingAbscessAbnormality of lower limb jointFasciitisLichenificationShort attention spanHyperactivityBruising susceptibilitySyncopeGrowth delayAnemiaUnexplained feversDysphagiaRecurrent aspiration pneumoniaAbnormality of the autonomic nervous systemDistal sensory impairmentAbnormality of the ankleSeptic arthritisAbnormal hip bone morphologySomatic sensory dysfunctionFunctional motor deficitOrthostatic hypotension due to autonomic dysfunctionDecreased corneal reflexAlveolar ridge overgrowthAvascular necrosisFeeding difficultiesTooth abscessTongue painImpulsivityAbnormal lumbar spine morphologyAbnormal emotional stateCorneal scarringHyperhidrosisHypothermiaChronic kidney diseaseCorneal ulcerationHyperesthesiaGait disturbance
Classification & Codes
Orphanet Code
ORPHA:642congenital insensitivity to pain with anhidrosis
| Orphanet | ORPHA:642 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO