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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Start free with EleplanThis 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.