Rare diseases · Sign or symptom

Transverse terminal upper limb defect

HP:6000918

What it means

A congenital anomaly that appears as an amputation at different levels of the arm, e.g. humerus, proximal forearm, wrist or finger. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.

Part of the broader category

Also called: Transverse terminal upper limb reduction

Transverse terminal upper limb defect

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.