Rare diseases · Sign or symptom
Bilateral ptosis
Drooping of both upper eyelids
HP:0001488
Rare diseases that can present with this34
Common30–79%
15- 2q23.1microduplication syndrome
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal dominant optic atrophy plus syndrome
- Aymé-Gripp syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Isolated permanent neonatal diabetes mellitus
- Native American myopathy
- Schuurs-Hoeijmakers syndrome
- Synaptic congenital myasthenic syndrome
- Temple-Baraitser syndrome
- X-linked intellectual disability-craniofacioskeletal syndrome
Sometimes5–29%
13- Classical-like Ehlers-Danlos syndrome type 2
- DEND syndrome
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- DOORS syndrome
- Helsmoortel-Van der Aa syndrome
- Kniest dysplasia
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Plectin-related limb-girdle muscular dystrophy R17
and 5 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
Bilateral 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.