The CDH11 gene helps cells in connective tissues, especially developing bone and cartilage, stick together and line up to form normal body structures. If it does not work properly, early tissue shaping can be disrupted, which may lead to changes in facial features, eye development, hearing, and bone growth. Certain variants in the CDH11 gene are linked to a rare inherited condition called Elsahy-Waters syndrome.
What is a gene?
A gene is a piece of DNA that holds instructions your cells use to make molecules or manage activities in the body. Some genes provide the directions for producing proteins, which are the parts of cells that do much of the work. Others mostly regulate when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body grows and works, and they can also influence how you respond to food, stress, and medicines. More detail on this topic is available in the LearnHub.
Overview
CDH11Gene function
What if the gene works
The CDH11 gene helps nearby cells stick together, especially in bone and connective tissue. This supports normal tissue shaping, bone development, and joint lining structure.
Risk
What if the gene does not work
More disruptive variants in the CDH11 gene can cause a rare inherited condition affecting the face and skeleton, often with hearing loss; milder variants may cause a less marked pattern.
Treatment
What does that mean for your treatment
No treatment or management approach is currently established specifically for pathogenic variants in the CDH11 gene. The CDH11 gene is being studied as a possible biomarker and drug target in some cancers and in fibrotic or inflammatory conditions, but this has not led to routine care based on CDH11 status.
Conditions associated with CDH11
Gene function
What if the gene works
Cells in connective tissues need firm, well-placed contacts to stay organized. The CDH11 gene supports those contacts and helps neighboring cells coordinate their shape and position. Understanding how the CDH11 gene helps cells stick together makes it easier to see how tissues keep their structure day to day.
The CDH11 gene helps neighboring cells attach to each other at the cell surface. Its protein uses calcium as a helper so cells can form stable, selective connections.
These cell-to-cell links help similar cells stay grouped in an orderly pattern. This supports the structure of connective tissues and helps cells hold their place.
When cells connect through CDH11, they also send signals inward that affect the actin skeleton (the cell’s inner support framework). This helps cells adjust their shape and movement in a coordinated way.
What is a variant?
A genetic variant is a minor change in the DNA sequence of a gene. These changes are common and help shape normal human diversity, including differences in appearance, metabolism, and the way the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. In some cases, though, a variant can change how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
When looking at how variants in the CDH11 gene affect protein function, many changes alter the protein's shape or reduce how much reaches the cell surface. This can weaken cell to cell attachment and related signaling during development. Some variants only partly reduce function. More disruptive variants can remove it almost completely, and in Elsahy-Waters syndrome this may influence how early features appear and how broad they are.
How variants are linked to conditions
Pathogenic variants in the CDH11 gene are best known for causing Elsahy-Waters syndrome, a rare inherited condition that can affect facial features, the eyes, teeth, and bone growth. When these variants are present in both copies of the CDH11 gene, they can confirm the diagnosis. Research has explored other possible CDH11 gene variants and related conditions, but Elsahy-Waters syndrome is the main well-established association.
A variant is not necessarily a diagnosis
Genetic variants are a routine feature of human biology and are widely found in the general population. Most do not directly affect health and instead reflect normal human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a certain diagnosis, particularly when several genes and environmental factors are involved. In some situations, though, a single well-established variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that clearly increase or reduce health risk related to the CDH11 gene. Anyone with concerns about their personal or family risk can discuss it with a doctor or genetic counselor.
Inheritance of CDH11 variants
For families asking how CDH11 gene variants are inherited, the best established pattern is autosomal recessive. This means a child usually needs to inherit one altered copy of the CDH11 gene from each parent to have a CDH11-related condition. When both parents are carriers, each pregnancy has a 25% chance of an affected child, a 50% chance of a child who is also a carrier, and a 25% chance of a child with neither variant. The CDH11 gene is on chromosome 16, so this inheritance pattern affects sons and daughters equally.
What does my CDH11 result mean for my family?
For families with a disease-causing CDH11 change linked to Elsahy-Waters syndrome, relatives may also be carriers even if they do not have health problems. Brothers and sisters may share the same result, so family members may want to discuss whether testing would be useful for them. This pattern is usually recessive, which means the main family concern is often carrier status and the chance of the condition appearing in future children.
Genetic information
Genetic testing
How you find out about variants
To find out about variants in the CDH11 gene, CDH11 genetic testing uses a blood or saliva sample, often in a multigene panel. A lab reads the DNA sequence and compares it with a reference to identify variants. Results may be reported as benign, uncertain, or pathogenic.
When should I consider getting a genetic test?
Changes in CDH11 are not usually a stand-alone reason for genetic testing in routine care. Testing decisions are usually based on your personal health history, family history, and whether a doctor or genetic counselor thinks a broader test could help.
A genetic result is only one part of your health story
Genetic results can provide useful insight, but how much they reveal depends on the condition and on the specific type of variant. Over time, many factors, including lifestyle, environment, age, and medical history, also shape how the body works. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it through the body, or responds to it at its target. This is common and helps explain why the same treatment may work well for one person, work less well for another, or cause more side effects in someone who is more sensitive to it.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes can shape a person’s response to medicines. It studies patterns between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medications, genes influence how strongly a drug works or how the body handles it. This understanding can support more informed and individualized treatment decisions. More information about this topic is available in the LearnHub.
Drugs influenced by the CDH11 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices, so general health concerns, side effects, or questions about how a medicine is working are best discussed with your doctor or pharmacist.