Bloom syndrome
MeSH: D001816ORPHA: 125
Overview
rare genetic disorder with short strature and predisposition to cancer
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 Bloom syndrome, sourced from HPO and Orphanet clinical annotations.
Growth delayIntrauterine growth retardationSmall for gestational ageAbnormality of the immune systemDecreased circulating immunoglobulin concentrationSevere postnatal growth retardationAdipose tissue lossMalar flatteningNarrow faceRetrognathiaMicrognathiaOtitis mediaInsulin resistanceCafe-au-lait spotSkin rashCutaneous photosensitivityHypopigmentation of the skinGastroesophageal refluxNeoplasmRecurrent infectionsDecreased circulating IgA concentrationDecreased circulating total IgMMale infertilityDecreased circulating IgG concentrationPoor appetitePremature ovarian insufficiencyAbnormal CD8+ T cell proportionDecreased CD4+ T cell proportionDecreased head circumferenceRecurrent urinary tract infectionsAzoospermiaUveitisSparse eyelashesOligozoospermiaDiabetes mellitusTelangiectasiaPoikilodermaParonychiaPneumoniaPatchy alopeciaLymphomaMyelodysplasiaAcute myeloid leukemiaRecurrent herpesChronic pulmonary obstructionAcute lymphoblastic leukemiaMalignant genitourinary tract tumorAbnormal blistering of the skinNeoplasm of the skinRecurrent tonsillitisGastrostomy tube feeding in infancyRespiratory tract infectionRhinitisBronchitisAbdominal obesitySevere toxoplasmosisAbscessRecurrent gastroenteritisSevere varicella zoster infectionNeoplasm of the breastNeoplasm of the colonCheilitisRetinopathyNephroblastomaRespiratory failureStomach cancerEsophageal neoplasm
Classification & Codes
MeSH Code
D001816Orphanet Code
ORPHA:125Bloom syndrome
| MeSH | D001816 |
| Orphanet | ORPHA:125 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO