Rare diseases · Sign or symptom
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
HP:0000582
What it means
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Rare diseases that can present with this146
Very common80–99%
36- 22q11.2deletion syndrome
- AREDYLD syndrome
- Autosomal recessive primary microcephaly
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Cerebrooculonasal syndrome
- CK syndrome
- C syndrome
- Cutaneous mastocytosis-deafness-microtia syndrome
- Delayed membranous cranial ossification
- Distal deletion 17q syndrome
- Distal deletion 9p syndrome
- Distal monosomy 7q36 syndrome
- Down syndrome
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- Intellectual disability, Wolff type
- Koolen-De Vries syndrome
- Leri pleonosteosis
- Mandibulofacial dysostosis-microcephaly syndrome
- Microcephaly-microcornea syndrome, Seemanova type
- Microtriplication 11q24.1 syndrome
- Multiple epiphyseal dysplasia, Lowry type
- Nijmegen breakage syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Pitt-Hopkins syndrome
- PMM2-CDG
- Smith-Magenis syndrome
- Thakker-Donnai syndrome
- Trisomy 18p syndrome
- Trisomy 8q syndrome
- Wiedemann-Rautenstrauch syndrome
- X-linked intellectual disability, Golabi-Ito-Hall type
- Zellweger-like syndrome without peroxisomal anomalies
- Zellweger syndrome
Common30–79%
44- 10q22.3q23.3microduplication syndrome
- 1p21.3microdeletion syndrome
- 1q41q42microdeletion syndrome
- 1q44microdeletion syndrome
- 20q13.33microdeletion syndrome
- 2q37microdeletion syndrome
- 48,XXXY syndrome
- 48,XXYY syndrome
- 49,XXXXY syndrome
- 5q14.3microdeletion syndrome
- 6q16microdeletion syndrome
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Autosomal dominant Robinow syndrome
- Autosomal dominant spondylocostal dysostosis
- Autosomal recessive Robinow syndrome
- Aymé-Gripp syndrome
- Bencze syndrome
- Branchio-oculo-facial syndrome
- CHIME syndrome
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Deafness-craniofacial syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Distal deletion 15q syndrome
- Emanuel syndrome
- Femoral-facial syndrome
- Intellectual disability-strabismus syndrome
- Isotretinoin-like syndrome
- Kleefstra syndrome
- LIG4 syndrome
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- MEND syndrome
- Monosomy 9p syndrome
- Non-distal deletion 10q syndrome
- Oculomaxillofacial dysostosis
- Orofaciodigital syndrome type 14
- Otoonychoperoneal syndrome
- Pallister-Killian syndrome
- Pentasomy X syndrome
- Peters plus syndrome
- Pterygium colli-intellectual disability-digital anomalies syndrome
- Ramos-Arroyo syndrome
- Renpenning 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: Mongoloid slant · Upslanted palpebral fissures · Upslanting palpebral fissures · Upward slanted palpebral fissures · Upward slanting of palpebral fissures · Upward slanting palpebral fissures
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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.