Rare diseases · Sign or symptom
Blepharophimosis
Narrow opening between the eyelids
HP:0000581
What it means
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus.
Rare diseases that can present with this88
Very common80–99%
31- 2p15p16.1microdeletion syndrome
- 8q22.1microdeletion syndrome
- Arthrogryposis multiplex congenita-whistling face syndrome
- Ascher syndrome
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Blepharonasofacial malformation syndrome
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Blepharophimosis-ptosis-epicanthus inversus syndrome
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Craniofacial-deafness-hand syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Dermotrichic syndrome
- Distal duplication 6p syndrome
- Flat face-microstomia-ear anomaly syndrome
- Frontofacionasal dysplasia
- Koolen-De Vries syndrome
- Marden-Walker syndrome
- Microphthalmia with limb anomalies
- Monosomy 9p syndrome
- Neonatal hemochromatosis
- Non-distal duplication 10q syndrome
- Proximal Xq28 duplication syndrome
- Trisomy 18p syndrome
- Unilateral ocular duplication
- Van den Ende-Gupta syndrome
- Waardenburg syndrome type 3
- Williams syndrome
- X-linked intellectual disability, Shashi type
Common30–79%
38- 14q11.2microdeletion syndrome
- 16p11.2p12.2microdeletion syndrome
- 3MC syndrome
- 48,XXYY syndrome
- 49,XXXXY syndrome
- 8q21.11microdeletion syndrome
- Acrootoocular syndrome
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Blepharophimosis-intellectual disability syndrome, MKB type
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Borjeson-Forssman-Lehmann syndrome
- Braddock syndrome
- Chondrodysplasia-difference of sex development syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- Distal deletion 15q syndrome
- Distal duplication 15q syndrome
- Distal duplication 17q syndrome
- Duane retraction syndrome
- Dubowitz syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Intellectual disability, Buenos-Aires type
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- Kagami-Ogata syndrome
- Leri pleonosteosis
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Mosaic trisomy 14 syndrome
- Myhre syndrome
- Nicolaides-Baraitser syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Oculoectodermal syndrome
- Pelviscapular dysplasia
- Pfeiffer-Palm-Teller syndrome
- Pseudoaminopterin syndrome
- Schwartz-Jampel syndrome
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- Trisomy 18 syndrome
- X-linked intellectual disability, Cabezas type
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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Decreased width of 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.