Trait
Blepharochalasis
Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.
Summary
- Also called
- Saggy upper eyelid skin
Reference genomeGRCh38hg38
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Get my Genome Test8 genes linked to Blepharochalasis
Changes in these genes cause rare conditions in which Blepharochalasis 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Always | In 1 condition |
| CDH11cadherin 11 | Very often (80–99%) | In 1 condition |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Often (30–79%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A2collagen type V alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| GSNgelsolin | Sometimes (5–29%) | In 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
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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