Rare diseases · Sign or symptom

Short 1st metacarpal

Shortened 1st long bone of hand

HP:0010034

What it means

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.

In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="https://orcid.org/0000-0002-0736-9199"}

Rare diseases that can present with this9

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: First metacarpal hypoplasia · First metacarpals hypoplastic · Hypoplastic 1st metacarpal · Short first metacarpal · Short first metacarpals

Short 1st metacarpal

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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.