Rare diseases · Sign or symptom
Facial edema
Facial puffiness
HP:0000282
Rare diseases that can present with this29
Very common80–99%
5Common30–79%
8- Athyreosis
- Hereditary angioedema with C1Inh deficiency
- Hereditary angioedema with normal C1Inh
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- Isolated thyroid-stimulating hormone deficiency
- Juvenile nasopharyngeal angiofibroma
- Trichinellosis
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: Facial oedema · Facial swelling · Swelling of the face
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Start free with EleplanThis 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.