Rare diseases · Sign or symptom
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
HP:0000494
What it means
The palpebral fissure inclination is more than two standard deviations below the mean.
Rare diseases that can present with this275
Very common80–99%
75- 14q22q23microdeletion syndrome
- 15q overgrowth syndrome
- 16p11.2p12.2microdeletion syndrome
- 2p15p16.1microdeletion syndrome
- Acrocraniofacial dysostosis
- Acrofacial dysostosis, Catania type
- Acrofrontofacionasal dysostosis
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Autosomal recessive cutis laxa type 2, classic type
- Baraitser-Winter cerebrofrontofacial syndrome
- Carey-Fineman-Ziter syndrome
- CEDNIK syndrome
- Char syndrome
- Coffin-Lowry syndrome
- Cohen syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Craniofacial-deafness-hand syndrome
- Craniometadiaphyseal dysplasia, wormian bone type
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- De Barsy syndrome
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Distal duplication 15q syndrome
- Donnai-Barrow syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Fibulo-ulnar hypoplasia-renal anomalies syndrome
- Freeman-Sheldon syndrome
- Frontometaphyseal dysplasia
- Gingival fibromatosis-facial dysmorphism syndrome
- GMS syndrome
- Hajdu-Cheney syndrome
- Hartsfield syndrome
- Infantile spasms-broad thumbs syndrome
- Intellectual disability, Buenos-Aires type
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Lateral meningocele syndrome
- Mesomelia-synostoses syndrome
- Mevalonic aciduria
- Microcephalic primordial dwarfism, Toriello type
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Nager syndrome
- Neurofibromatosis-Noonan syndrome
- Non-distal duplication 10q syndrome
- Noonan syndrome
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- Overgrowth-macrocephaly-facial dysmorphism syndrome
- Postaxial acrofacial dysostosis
- Progressive non-infectious anterior vertebral fusion
- Restrictive dermopathy
- RIN2 syndrome
- Ring chromosome 10 syndrome
- Ring chromosome 1 syndrome
- Ring chromosome 7 syndrome
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Ruvalcaba syndrome
- Short stature-wormian bones-dextrocardia syndrome
- Shprintzen-Goldberg syndrome
- Treacher-Collins syndrome
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- Waardenburg syndrome type 3
- Wolf-Hirschhorn syndrome
- Wrinkly skin syndrome
- W syndrome
- X-linked intellectual disability, Armfield type
- X-linked intellectual disability, Cabezas type
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
- X-linked mandibulofacial dysostosis
- Xp22.13p22.2duplication 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: Antimongoloid eye slant · Antimongoloid slant of palpebral fissures · Antimongoloid slanted palpebral fissures · Down slanting palpebral fissures · Down-slanted palpebral fissures · Down-slanting palpebral fissure · Down-slanting palpebral fissures · Downslanting palpebral fissure
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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.