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Trait

Cleft upper eyelid

Clinical name: Upper eyelid coloboma

A short discontinuity of the margin of the upper eyelid.

HPO HP:0000636

Summary

Also called
Notched upper eyelid, Coloboma of the upper eyelid, Full thickness defect of the upper eyelid, Upper eyelid colobomas
Body system
Abnormality of head or neck

9 genes linked to Cleft upper eyelid

Changes in these genes cause rare conditions in which Cleft upper eyelid is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
ALX1ALX homeobox 1AlwaysIn 1 condition
TWIST1twist family bHLH transcription factor 1AlwaysIn 1 condition
FREM1FRAS1 related extracellular matrix 1Very often (80–99%)In 1 condition
POLR1ARNA polymerase I subunit AOften (30–79%)In 1 condition
TCOF1treacle ribosome biogenesis factor 1Often (30–79%)In 1 condition
CDH11cadherin 11Sometimes (5–29%)In 1 condition
SF3B2splicing factor 3b subunit 2Sometimes (5–29%)In 1 condition
SLC25A24solute carrier family 25 member 24Sometimes (5–29%)In 1 condition
FRAS1Fraser extracellular matrix complex subunit 1Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Cleft eyelid

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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