hereditary desmoid disease (familial infiltrative fibromatosis)

Genetics

• autosomal dominant (100% penetrance)
• associated with defects in APC

Clinical manifestations

• multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall
• mesentery desmoid tumors appear as a complication of familial adenomatous polyposis

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• desmoid tumor

Patient information

hereditary desmoid disease patient information

Database

• OMIM: https://mirror.omim.org/entry/135290