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Reference

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Reactions
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Diseases

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A reference for what the literature reports. Not medical advice.

Disease

patella aplasia/hypoplasia

MONDO:0008205Mondo

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Findings

No curated finding names patella aplasia/hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.

Definition from the Mondo Disease Ontology (MONDO:0008205), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: dysostosis
hereditary disease
Narrower terms (2): patella aplasia/hypoplasia, bilateral
patella aplasia/hypoplasia, unilateral

Other names

2 names

Resolves to: patella aplasia/hypoplasia

Also called: patella aplasia or hypoplasiaPTLAH