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Nijmegen breakage syndrome

MeSH: D049932ORPHA: 647

Contents

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

Overview

human 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 Nijmegen breakage syndrome, sourced from HPO and Orphanet clinical annotations.

Cleft palateMicrocephalyAbnormality of the faceRetrognathiaLow anterior hairlineSloping foreheadHearing abnormalityMacrotiaProminent nasal bridgeConvex nasal ridgeProminent noseShort neckAbnormal eyelid morphologyUpslanted palpebral fissureCutaneous photosensitivityMental deteriorationMuscle weaknessFrecklingAbnormal hair morphologyThrombocytopeniaHemolytic anemiaAutoimmune hemolytic anemiaDeep philtrumAnal atresiaAnal stenosisChronic diarrheaRecurrent respiratory infectionsAbnormality of neuronal migrationAcute leukemiaNeoplasmLymphomaRhabdomyosarcomaRespiratory failureAbnormality of the musculatureSkeletal muscle atrophyAbnormality of chromosome stabilityShort statureCachexiaDepressed nasal bridgeRecurrent sinopulmonary infectionsRecurrent pneumoniaAttention deficit hyperactivity disorderGliomaAbnormal hair quantityT-cell lymphomaB-cell lymphomaAnorectal anomalyNon-midline cleft of the upper lipPollakisuria

Classification & Codes

MeSH Code

D049932

Orphanet Code

ORPHA:647
Nijmegen breakage syndrome
MeSHD049932
OrphanetORPHA:647
Treatments0 drug(s)
Symptoms on record49 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO