How do people get Ehlers-Danlos syndrome? A genetic overview

September 21, 2025 •

4 min read

Affecting approximately 1 in 5,000 people, Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders. The primary question of how do people get Ehlers-Danlos syndrome? is centered on understanding the specific genetic mutations and inheritance patterns responsible for the condition.

Quick Summary

Ehlers-Danlos syndrome is caused by genetic mutations that weaken the body's connective tissue, and these mutations can be inherited from one or both parents or can occur spontaneously as a new mutation.

Key Points

Genetic Cause: Ehlers-Danlos syndromes are caused by mutations in genes that are responsible for producing and processing collagen and other connective tissue proteins.
Inherited Patterns: EDS can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific subtype.
Dominant vs. Recessive: Autosomal dominant forms, like hEDS, require only one copy of the mutated gene, while autosomal recessive forms, like kEDS, require two copies.
New Mutations: In approximately 50% of classical EDS cases and other types, the mutation occurs spontaneously (de novo) in the individual and is not inherited from a parent.
hEDS Genetics: The genetic cause for the most common subtype, hypermobile EDS (hEDS), is still unknown, and its diagnosis is based on clinical criteria.
Genetic Counseling: Families concerned about EDS can seek genetic counseling to understand inheritance risks and consider genetic testing.

The Genetic Basis of Ehlers-Danlos Syndrome

EDS is fundamentally a genetic disorder that affects the body’s connective tissues, which provide structure and support to the skin, joints, bones, and blood vessel walls. Most types of EDS are caused by mutations in genes that are responsible for producing or processing collagen, a crucial protein for connective tissue health. A defect in these genes can lead to disorganized or weakened collagen, resulting in the characteristic symptoms of EDS, such as hypermobile joints and fragile skin.

The Role of Collagen

Connective tissue is a complex matrix of proteins and other substances. Collagen is a key component of this matrix, acting like a scaffold that gives strength and elasticity to tissues. When genetic mutations disrupt the production or assembly of collagen, the connective tissue loses its structural integrity. The specific gene affected determines the type of EDS and the resulting symptoms. For example, mutations in the COL3A1 gene cause Vascular EDS, leading to fragility in blood vessels and internal organs.

Inheritance Patterns of EDS

The way EDS is passed down through families depends on the specific subtype of the syndrome. There are three primary patterns of inheritance seen in EDS:

Autosomal Dominant Inheritance

In this pattern, only one copy of the altered gene in each cell is needed to cause the disorder. This is the most common inheritance pattern for EDS. An affected person has a 50% chance of passing the altered gene on to each child. Examples of EDS types inherited this way include:

Hypermobile EDS (hEDS)
Classical EDS (cEDS)
Vascular EDS (vEDS)

Autosomal Recessive Inheritance

For a child to be affected by an autosomal recessive form of EDS, they must inherit two copies of the altered gene—one from each parent. The parents of an affected individual are typically carriers, meaning they carry one copy of the altered gene but do not show signs of the disorder. With each pregnancy, there is a 25% chance of the child inheriting the disorder. The kyphoscoliotic type of EDS follows this inheritance pattern.

De Novo (Spontaneous) Mutations

In some cases, a genetic mutation can occur spontaneously in an individual, making them the first person in their family to have EDS. These new mutations, or de novo mutations, are not inherited from a parent but can then be passed down to the individual's children according to the appropriate inheritance pattern for their EDS type. This explains why some people with EDS have no family history of the condition.

Specific Genes and EDS Subtypes

There are 13 recognized types of EDS, each with distinct clinical criteria and, for most, a known genetic cause.

Hypermobile EDS (hEDS): This is the most common type, but the specific gene(s) causing it have not yet been identified. Diagnosis relies on clinical evaluation based on the 2017 international criteria. It is believed to be inherited in an autosomal dominant manner.
Classical EDS (cEDS): Characterized by skin hyperextensibility, fragility, and atrophic scarring, cEDS is caused by mutations in the COL5A1 or COL5A2 genes, which code for type V collagen. It is inherited in an autosomal dominant fashion.
Vascular EDS (vEDS): This subtype involves fragile blood vessels and organs and is caused by mutations in the COL3A1 gene, which codes for type III collagen. It follows an autosomal dominant inheritance pattern.

The Role of Genetic Counseling

For families with a history of EDS or those considering having children, consulting with a genetic counselor is highly beneficial. A genetic counselor can help interpret genetic test results, explain inheritance patterns, and assess the risk of passing the condition to offspring. Genetic testing, often involving whole genome sequencing, can identify specific mutations for many EDS types, which is essential for accurate diagnosis and management. However, for hEDS, genetic testing is not currently diagnostic due to the unknown genetic cause.

Comparison of Major EDS Inheritance Patterns


Feature	Autosomal Dominant Inheritance	Autosomal Recessive Inheritance	De Novo Mutation
Copies of altered gene needed	One	Two	One (caused spontaneously)
Affected parents?	One affected parent is common; can be de novo	Both parents are usually unaffected carriers	Neither parent is affected or a carrier
Transmission to child	50% chance with each pregnancy	25% chance with each pregnancy	Zero (spontaneous occurrence)
Who is affected?	Both males and females are affected equally	Both males and females are affected equally	Both males and females are affected equally
Examples of EDS	hEDS, cEDS, vEDS	Kyphoscoliotic EDS (kEDS)	Can occur in any EDS type

Conclusion

In short, Ehlers-Danlos syndrome is a collection of genetic disorders caused by underlying mutations that impair the body's connective tissue. The pathways to getting EDS are primarily through inheritance from one or both parents or through a new, random genetic mutation. With advancements in genetic research, a precise diagnosis is becoming more accessible for many types, though the genetic cause for the most common type, hEDS, remains a subject of ongoing study. Understanding the genetic origins of EDS is critical for accurate diagnosis, management, and genetic counseling for affected individuals and their families. To learn more about EDS, its symptoms, and causes, you can visit the official Mayo Clinic page on the condition.

Disclaimer: This article provides general information and is not a substitute for professional medical advice. Always consult with a qualified healthcare provider for diagnosis and treatment.

Frequently Asked Questions

In autosomal dominant forms of EDS, like hypermobile EDS, the condition can appear to 'skip' a generation if a person with the gene has very mild or undiagnosed symptoms. The gene is still passed on, but the person carrying it may not be obviously affected, so it only becomes apparent in their child.

The chances depend on the specific type of EDS and its inheritance pattern. For autosomal dominant types (like hEDS, cEDS, vEDS), there is a 50% chance of passing the gene to each child. For recessive types (like kEDS), both parents must be carriers for there to be a risk.

Yes, it is possible. A significant number of EDS cases, particularly classic and vascular types, are caused by a de novo or spontaneous genetic mutation. This means you are the first person in your family to have the disorder, and it was not inherited from a parent.

Yes, hypermobile EDS is understood to follow an autosomal dominant inheritance pattern. While the specific gene is not yet identified, it is commonly passed down from one affected parent, meaning there is a 50% chance of passing the gene on to a child.

For most types of EDS (excluding hEDS), genetic testing, often through a blood sample, can identify the specific gene mutation responsible. This can confirm a diagnosis. For hEDS, a clinical diagnosis is made based on a physical examination and medical history.

Yes, this occurs with the autosomal recessive types of EDS, such as kyphoscoliotic EDS (kEDS). Both parents would be unaffected carriers, and with each pregnancy, there is a 25% chance of the child inheriting two altered genes and being affected by the condition.

An inherited mutation is passed down from a biological parent who also has the gene. A de novo mutation occurs spontaneously during the formation of the egg or sperm cell, and the individual becomes the first in their family to have the mutation. Both can cause EDS, but only the inherited one has a family history.