Rare diseases · Sign or symptom
Short palpebral fissure
Short opening between the eyelids
HP:0012745
What it means
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Rare diseases that can present with this44
Very common80–99%
9Common30–79%
23- 16p12.1p12.3triplication syndrome
- 2q31.1microdeletion syndrome
- Acro-renal-ocular syndrome
- Alazami syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Fanconi anemia
- Feingold syndrome type 1
- Intellectual disability-brachydactyly-Pierre Robin syndrome
- Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Leri pleonosteosis
- McDonough syndrome
- MOGS-CDG
- Myhre syndrome
- Nicolaides-Baraitser syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Oculoectodermal syndrome
- Pelvis-shoulder dysplasia
- Peters plus syndrome
- Toluene embryopathy
- Wiedemann-Steiner syndrome
- Zechi-Ceide syndrome
Sometimes5–29%
12- 21q22.11q22.12microdeletion syndrome
- 6q terminal deletion syndrome
- 7q31microdeletion syndrome
- Andersen-Tawil syndrome
- Arterial tortuosity syndrome
- Congenital insensitivity to pain with severe intellectual disability
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
and 4 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: Decreased height of palpebral fissure · Short 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.