Hennekam lymphangiectasia-lymphedema syndrome 2

MONDO:0014454

Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.

Also known as: FAT4 Hennekam syndrome, Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome type 2, Hennekam syndrome caused by mutation in FAT4, HKLLS2

1 clinical trial for this condition and its sub-types, 0 tagged with Hennekam lymphangiectasia-lymphedema syndrome 2 itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Hennekam syndrome (0)

Including sub-types (1) Tagged with Hennekam lymphangiectasia-lymphedema syndrome 2 (0)

Trials to join now! 1

Massive study launches to unravel mysteries of rare lymphatic diseases

Knowledge-focused Recruiting now

This natural history study aims to collect data from 1,200 people with lymphatic anomalies—rare conditions affecting the body's lymph system—over many years. Researchers will track symptoms, perform genetic testing, and gather biospecimens to better understand why these condition…

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Aug 08, 2026 00:03 UTC

Hennekam lymphangiectasia-lymphedema syndrome 2

Where it sits in the disease tree

Massive study launches to unravel mysteries of rare lymphatic diseases