Hereditary hemorrhagic telangiectasia

Also known as: Osler–Weber–Rendu syndrome

Inherited vascular dysplasia with epistaxis, telangiectasias and visceral arteriovenous malformations.

Medical specialty: Hematology
Subspecialty: Hematology / Vascular disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, epistaxis in childhood
Gene(s) involved: ACVRL1, ENG, GDF2, SMAD4

Etiology & mechanism

Impaired BMP9/10–ALK1–endoglin signaling.

Gene(s) involved (4)

ACVRL1ENGGDF2SMAD4

Symptoms & signs (6)

cerebral avmgastrointestinal bleedingiron deficiency anemiamucocutaneous telangiectasiaspulmonary avmrecurrent epistaxis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.