Rare diseases · Sign or symptom
Aplasia/hypoplasia involving bones of the upper limbs
Absent/small bones of the upper limbs
HP:0006496
What it means
Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.
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
Also called: Absent/underdeveloped bones of the upper limbs
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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.