neurofibromatosis type I

ICD-10: Q85.0MeSH: D009456ORPHA: 636

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

type of neurofibromatosis 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 neurofibromatosis type I, 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

ICD-10 Code

Q85.0

MeSH Code

D009456

Orphanet Code

ORPHA:636

neurofibromatosis type I

ICD-10	`Q85.0`
MeSH	`D009456`
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