Rare diseases · Sign or symptom
Epicanthus
Eye folds
HP:0000286
What it means
A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris.
Rare diseases that can present with this321
Very common80–99%
73- 14q22q23microdeletion syndrome
- 22q11.2deletion syndrome
- 2p15p16.1microdeletion syndrome
- 3q13microdeletion syndrome
- 48,XYYY syndrome
- 49,XXXYY syndrome
- Acrocephalopolydactyly
- Aminopterin/methotrexate embryofetopathy
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Benign Samaritan congenital myopathy
- Blepharophimosis-ptosis-epicanthus inversus syndrome
- Carey-Fineman-Ziter syndrome
- Carpenter syndrome
- CHIME syndrome
- CK syndrome
- CODAS syndrome
- Coffin-Lowry syndrome
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Cranioectodermal dysplasia
- C syndrome
- De Barsy syndrome
- Distal deletion 1q syndrome
- Down syndrome
- Dysmorphism-cleft palate-loose skin syndrome
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Fetal trimethadione syndrome
- Fetal valproate spectrum disorder
- FOXG1 syndrome due to 14q12 microdeletion
- GMS syndrome
- Hall-Riggs syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Hydrocephaly-low insertion umbilicus syndrome
- Koolen-De Vries syndrome
- Microcephaly-deafness-intellectual disability syndrome
- Microcephaly-microcornea syndrome, Seemanova type
- Miller-Dieker syndrome
- Monosomy 5p syndrome
- Monosomy 9q22.3 syndrome
- Mosaic variegated aneuploidy syndrome
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Non-distal deletion 10q syndrome
- PEHO syndrome
- Potocki-Shaffer syndrome
- Progeroid syndrome, Petty type
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Proximal Xq28 duplication syndrome
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Renal agenesis, bilateral
- Rhizomelic chondrodysplasia punctata
- Rhizomelic dysplasia, Patterson-Lowry type
- Ring chromosome 2 syndrome
- Ring chromosome 6 syndrome
- Ring chromosome 7 syndrome
- Ring chromosome 8 syndrome
- Short stature-craniofacial anomalies-genital hypoplasia syndrome
- Sialuria
- Spinocerebellar ataxia-dysmorphism syndrome
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Stickler syndrome
- Trisomy 12p syndrome
- Velo-facial-skeletal syndrome
- White forelock with malformations
- Williams syndrome
- Wolf-Hirschhorn syndrome
- Wrinkly skin syndrome
- X-linked intellectual disability, Armfield type
- Xq12-q13.3 duplication syndrome
- X small rings syndrome
- Zellweger-like syndrome without peroxisomal anomalies
- Zellweger syndrome
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: Epicanthal fold · Epicanthal folds · Epicanthic folds · Palpebronasal fold · Plica palpebronasalis · Prominent eye folds
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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.