Rare diseases · Sign or symptom
Ptosis
Drooping upper eyelid
HP:0000508
What it means
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Rare diseases that can present with this305
Very common80–99%
75- 14q22q23microdeletion syndrome
- 2p15p16.1microdeletion syndrome
- 3MC syndrome
- 8q21.11microdeletion syndrome
- Acrocraniofacial dysostosis
- Acrofrontofacionasal dysostosis
- Adult intestinal botulism
- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Autosomal dominant progressive external ophthalmoplegia
- Baraitser-Winter cerebrofrontofacial syndrome
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Blepharophimosis-ptosis-epicanthus inversus syndrome
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Blepharoptosis-myopia-ectopia lentis syndrome
- Brain dopamine-serotonin vesicular transport disease
- Camptodactyly-joint contractures-facial skeletal defects syndrome
- Carey-Fineman-Ziter syndrome
- Char syndrome
- CHIME syndrome
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Congenital fibrosis of extraocular muscles
- Congenital myasthenic syndrome
- Costello syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Distal deletion 3p syndrome
- Distal duplication 6p syndrome
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Foodborne botulism
- Frontofacionasal dysplasia
- Hartsfield syndrome
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Hypotonia-cystinuria syndrome
- Iatrogenic botulism
- Infant botulism
- Inhalational botulism
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Intestinal botulism
- Isolated complex I deficiency
- Koolen-De Vries syndrome
- Lateral meningocele syndrome
- Marden-Walker syndrome
- Mesomelia-synostoses syndrome
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephalic primordial dwarfism, Montreal type
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Moebius syndrome
- Neurofibromatosis-Noonan syndrome
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Noonan syndrome
- Oculocerebrocutaneous syndrome
- Oculogastrointestinal muscular dystrophy
- Oculopharyngeal muscular dystrophy
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- Pallister-Killian syndrome
- Pfeiffer syndrome
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Presynaptic congenital myasthenic syndrome
- Proximal Xq28 duplication syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Ptosis-vocal cord paralysis syndrome
- RHYNS syndrome
- Ring chromosome 1 syndrome
- Ruvalcaba syndrome
- Short stature-valvular heart disease-characteristic facies syndrome
- SIX2-related frontonasal dysplasia
- Spinocerebellar ataxia-dysmorphism syndrome
- Trisomy 5p syndrome
- Weiss-Kruszka Syndrome
- Wound botulism
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: Blepharoptosis · Eye drop · Eyelid ptosis · Palpebral ptosis
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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.