Rare diseases · Sign or symptom
Pterygium
HP:0001059
What it means
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Rare diseases that can present with this11
Sometimes5–29%
9- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive omodysplasia
- Dyssegmental dysplasia, Silverman-Handmaker type
- Fetal akinesia deformation sequence
- Junctional epidermolysis bullosa with pyloric atresia
- Lichen planopilaris
- Multicentric osteolysis-nodulosis-arthropathy spectrum
- Neu-Laxova syndrome
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: Pterygia
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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.