Rhizomelic arm shortening

What it means

Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).

This term implies that the ulna and radius are not substantially shortened.

Rare diseases that can present with this5

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