neurofibromatoses
MeSH: D017253ORPHA: 636
Overview
human diseases
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 neurofibromatoses, sourced from HPO and Orphanet clinical annotations.
Abnormality of the nervous systemDelayed pubertyMelanocytic nevusMultiple lipomasMild intellectual disabilitySpecific learning disabilitySubcutaneous noduleMeningiomaGeneralized hyperpigmentationMultiple cafe-au-lait spotsNeoplasm of the skinAstrocytomaPlexiform neurofibromaLisch nodulesMaculeCryptorchidismTall statureHearing abnormalityHearing impairmentAbnormality of the eyeAbnormality of visionProptosisAxillary frecklingHeterochromia iridisAtaxiaAbnormal speech patternHeadacheMemory impairmentSkeletal dysplasiaRecurrent fracturesGenu valgumSlender long boneParesthesiaAttention deficit hyperactivity disorderInguinal frecklingHydrocephalusMacrocephalyAbnormal eyelid morphologyGlaucomaVisual impairmentAbnormal electroretinogramCataractMyopiaChorioretinal colobomaAutistic behaviorAbnormality of the endocrine systemHypertensionPrecocious pubertyAbnormality of the skeletal systemOsteopeniaHypopigmented skin patchesSeizureJoint stiffnessAbnormality of the respiratory systemScoliosisNeoplasmPheochromocytomaKyphosisGenu varumAbnormal hip bone morphologyShort statureChronic myelogenous leukemiaNeoplasm of the gastrointestinal tractAbnormal retinal pigmentationCorneal opacityOptic nerve gliomaSpinal neurofibromaUrinary tract neoplasmAbnormality of the upper urinary tractAbnormal hair quantityNeoplasm of the breastSarcomaArterial stenosisGastrointestinal stroma tumorLeukemiaRhabdomyosarcomaCarcinoid tumor
Classification & Codes
MeSH Code
D017253Orphanet Code
ORPHA:636neurofibromatoses
| MeSH | D017253 |
| Orphanet | ORPHA:636 |
| Treatments | 0 drug(s) |
| Symptoms on record | 77 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO