Rare diseases · Sign or symptom
Lymphedema
Swelling caused by excess lymph fluid under skin
HP:0001004
What it means
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this53
Very common80–99%
19- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Cholestasis-lymphedema syndrome
- Chylous ascites
- Dahlberg-Borer-Newcomer syndrome
- GATA2 deficiency spectrum
- German syndrome
- Greenberg dysplasia
- Hennekam syndrome
- Idiopathic steroid-sensitive nephrotic syndrome
- Infantile systemic hyalinosis
- Lymphatic filariasis
- Lymphedema with yellow nails
- Meige disease
- Melorheostosis
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Milroy disease
- Mucopolysaccharidosis type 7
- Schneckenbecken dysplasia
- Secondary intestinal lymphangiectasia
Common30–79%
7Sometimes5–29%
24- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Autosomal recessive spastic paraplegia type 11
- Bannayan-Riley-Ruvalcaba syndrome
- Campomelia, Cumming type
- Capillary malformation-arteriovenous malformation
- Cardiofaciocutaneous syndrome
- Cerebrofacioarticular syndrome
and 16 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: Lymphatic obstruction · Lymphoedema · Onset of lymphedema around puberty
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.