Rare diseases · Sign or symptom
Palpebral edema
Fullness of eyelids
HP:0100540
What it means
Edema in the region of the eyelids.
Rare diseases that can present with this32
Very common80–99%
5Common30–79%
17- 20q11.2microduplication syndrome
- Acromegaly
- Blepharoptosis-myopia-ectopia lentis syndrome
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- FOXG1 syndrome due to 14q12 microdeletion
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Kikuchi-Fujimoto disease
- PEHO syndrome
- Phelan-McDermid syndrome
- Pyknoachondrogenesis
- Renin-angiotensin-aldosterone system-blocker-induced angioedema
- Scalp-ear-nipple syndrome
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Somatomammotropinoma
- Thymic carcinoma
Sometimes5–29%
9- 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- Baraitser-Winter cerebrofrontofacial syndrome
- Distal 22q11.2 microduplication syndrome
- IgG4-related dacryoadenitis and sialadenitis
- IgG4-related ophthalmic disease
- Leukocyte adhesion deficiency type II
- Macrocephaly-developmental delay syndrome
- Paroxysmal hemicrania
and 1 more in this range
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: Edema of the eyelids · Eyelid edema · Eyelid oedema · Oedema of the eyelids · Palpebral oedema · Puffy eyelids · Puffy lids · Swelling of eyelids
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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.