Rhizomelic leg shortening

What it means

Disproportionate shortening of the proximal segment of the leg (i.e. the femur).

This term implies that the fibula and tibia are not substantially shortened.

Rare diseases that can present with this2

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category