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Rare diseases · Sign or symptom

Short distal phalanx of the thumb

Short outermost bone of the thumb

HP:0009650

What it means

Hypoplastic (short) distal phalanx of the thumb.

Rare diseases that can present with this6

Very common80–99%

1

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

Aplasia/Hypoplasia of the distal phalanx of the thumbShort distal phalanx of fingerShort phalanx of the thumb

Also called: Hypoplastic terminal thumb phalanx · Hypoplastic/small distal phalanx of the thumb · Short terminal thumb phalanx · Short thumb terminal phalanx · Small terminal thumb phalanx

Short distal phalanx of the thumb

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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.