Rare diseases · Sign or symptom

Aplasia/Hypoplasia involving the metacarpal bones

Absent/small long bones of hand

HP:0005914

What it means

Aplasia or Hypoplasia affecting the metacarpal bones.

Rare diseases that can present with this2

Sometimes5–29%

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

Also called: Absent or hypoplastic metacarpals · Absent/underdeveloped long bones of hand · Aplastic/hypoplastic metacarpals · Hypoplastic metacarpals · Hypoplastic/absent metacarpal bones · Hypoplastic/absent metacarpals · Metacarpal aplasia/hypoplasia

Aplasia/Hypoplasia involving the…

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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.