Rare diseases · Sign or symptom
Exotropia
Outward facing eye ball
HP:0000577
What it means
A form of strabismus with one or both eyes deviated outward.
Rare diseases that can present with this34
Very common80–99%
4Common30–79%
8- Alternating hemiplegia of childhood
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- Developmental and speech delay due to SOX5 deficiency
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Nasopalpebral lipoma-coloboma syndrome
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Sometimes5–29%
18- 8q24.3microdeletion syndrome
- CDKL5-deficiency disorder
- DPAGT1-CDG
- DYRK1A-related intellectual disability syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Lelis syndrome
- Lowry-MacLean syndrome
- Microcephaly-thin corpus callosum-intellectual disability syndrome
and 10 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
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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.