Rare diseases · Sign or symptom
Coloboma
Notched pupil
HP:0000589
What it means
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Rare diseases that can present with this34
Very common80–99%
4Common30–79%
6Sometimes5–29%
16- 15q24microdeletion syndrome
- 2q31.1microdeletion syndrome
- Acro-renal-ocular syndrome
- Amniotic band syndrome
- Autosomal dominant keratitis
- Congenital muscular dystrophy with cerebellar involvement
- Craniofacial microsomia
- Kabuki syndrome
and 8 more in this range
Rare1–4%
8- Esophageal atresia
- Marcus-Gunn syndrome
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- Phakomatosis pigmentokeratotica
- Proximal renal tubular acidosis
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
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: Ocular coloboma · Ocular colobomas
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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.