Rare diseases · Sign or symptom
Iris coloboma
Cat eye
HP:0000612
What it means
A coloboma of the iris.
Rare diseases that can present with this95
Very common80–99%
6Common30–79%
32- Abruzzo-Erickson syndrome
- ALG2-CDG
- Branchio-oculo-facial syndrome
- BRESEK syndrome
- Cat-eye syndrome
- Congenital hydrocephalus
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Deaf blind hypopigmentation syndrome, Yemenite type
- Encephalocraniocutaneous lipomatosis
- Focal dermal hypoplasia
- Frontofacionasal dysplasia
- Frontorhiny
- Goldberg-Shprintzen megacolon syndrome
- Holoprosencephaly
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Joubert syndrome with hepatic defect
- Joubert syndrome with oculorenal defect
- Loose anagen syndrome
- Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
- Microphthalmia, Lenz type
- Microphthalmia with brain and digit anomalies
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- Monosomy 13q14 syndrome
- Mycophenolate mofetil embryopathy
- Pelvis-shoulder dysplasia
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Tetraamelia-multiple malformations syndrome
- Treacher-Collins syndrome
- Triploidy syndrome
- Trisomy 13 syndrome
- Uveal coloboma-cleft lip and palate-intellectual disability
- Wolf-Hirschhorn syndrome
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: Coloboma of iris · Coloboma of the iris · Keyhole iris
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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.