Rare diseases · Sign or symptom

Elevated amniotic fluid alpha-fetoprotein concentration

HP:0004639

What it means

An elevation of alpha-feto protein measured in the amniotic fluid.

This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele.

Rare diseases that can present with this3

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: Elevated amniotic fluid alpha fetal protein · Elevated amniotic fluid alpha foetal protein · Elevated amniotic fluid alpha-1-fetoprotein · Elevated amniotic fluid alpha-fetoglobulin

Elevated amniotic fluid alpha-fetoprotein…

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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.