Rare diseases · Sign or symptom
Anophthalmia
Absence of eyeballs
HP:0000528
What it means
Absence of the globe or eyeball.
Rare diseases that can present with this28
Very common80–99%
9- 14q22q23microdeletion syndrome
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Anophthalmia plus syndrome
- Cerebrooculonasal syndrome
- Matthew-Wood syndrome
- Microphthalmia-ankyloblepharon-intellectual disability syndrome
- Microphthalmia with brain and digit anomalies
- Microphthalmia with linear skin defects syndrome
- Trisomy 13 syndrome
Common30–79%
7Sometimes5–29%
10- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Focal dermal hypoplasia
- Hydrolethalus
- Meckel syndrome
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Microgastria-limb reduction defect syndrome
and 2 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: Absence of globes of eyes · Anophthalmia, clinical · Clinical anophthalmia, unilateral/bilateral · Failure of development of eyeball · Missing eyeball · Missing globe of eye · No eyeball · No globe of eye
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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.