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August 2016

Questions and Answers about

Heritable Disorders of

Connective Tissue

This publication contains general information

about heritable (genetic) disorders of

connective tissue (HDCTs). It describes what

they are, what causes them, and diagnosis

and treatment options. Highlights of current

research are also included. At the end is a list

of key words to help you understand the

medical terms used in this publication. If you

have further questions after reading this

publication, you may wish to discuss them

with your health care provider.

What Are Heritable Disorders of

Connective Tissue?

Heritable (genetic) disorders of connective

tissue are a family of more than 200 disorders

that affect connective tissues. These

disorders result from alterations (mutations)

in genes, and thus are called “heritable.” All

of these diseases are directly related to

mutations in genes that are responsible for

building tissues. Alterations in these genes

may change the structure and development

of skin, bones, joints, the heart, blood

vessels, lungs, eyes, and ears. Some

mutations also change how these tissues

work.

Some other connective tissue problems are

not directly linked to mutations in tissuebuilding genes, although some people may

be genetically predisposed to becoming

affected. Many, but not all, of the disorders

discussed in this publication are rare. See the

box “Some Common Heritable Disorders of

Connective Tissue.”

What Is Connective Tissue and What

Does Heritable Disorders Mean?

How Do People Get Gene

Alterations?

We want to hear from you 

Questions and Answers about Heritable Disorders of Connective Tissue https://www.niams.nih.gov/health_info/connective_tissue/

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Who Gets Heritable Disorders of

Connective Tissue?

Does Anything Increase the Chances

of Having a Genetic Disease?

How Does Genetic Counseling Help?

What Are the Symptoms of a

Heritable Disorder of Connective

Tissue?

How Do Doctors Diagnose Heritable

Disorders of Connective Tissue?

What Treatments Are Available?

What Research Is Being Conducted

on Heritable Disorders of Connective

Tissue?

Where Can People Find More

Information About Heritable Disorders

of Connective Tissue?

Key Words

Some Common Heritable

Disorders of Connective

Tissue

Physicians and scientists have

identified more than 200 heritable

connective tissue disorders.

Some of the more common ones

are listed below. Some of these

are really groups of disorders and

may be known by other names.

Ehlers-Danlos syndrome. The

problems present in the group of

disorders known as EhlersDanlos syndrome (EDS) include

changes in the physical properties

of skin, joints, blood vessels, and

other tissues such as ligaments

and tendons. People with EhlersDanlos syndrome have some

degree of joint looseness; fragile,

small blood vessels; abnormal

scar formation and wound

healing; and soft, velvety skin that

stretches excessively but returns

to normal after being pulled.

Some forms can cause problems

with the eyes and spine. EhlersDanlos syndrome can also lead to

weak internal organs, including

the uterus, intestines, and large

blood vessels. Mutations in

several different genes are

responsible for varying symptoms

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in the several types of EhlersDanlos syndrome. In most cases,

the genetic defect involves

collagen, the major proteinbuilding material of bone.

Epidermolysis bullosa. The

characteristic feature of

epidermolysis bullosa (EB) is

blistering of the skin, which

results when skin layers separate

after minor trauma. People with a

mild form of the disease may have

just a few blisters on skin,

whereas others may have many

blisters. In some forms, blisters

may form in the mouth, stomach,

esophagus, bladder, and other

parts of the body. Epidermolysis

bullosa can be both disabling and

disfiguring, and some forms may

lead to early death. Defects in

several proteins within the skin

are at fault.

Marfan syndrome. People with

Marfan syndrome tend to have a

tall, thin build with long arms and

legs and “spider-like” fingers.

Other problems include a

sideways curve of the spine

(scoliosis); crowded teeth; flat

feet; abnormal position of the lens

of the eye; and enlargement of

the beginning part of the aorta,

the major vessel carrying blood

away from the heart. If left

untreated, an enlarged aorta can

lead to hemorrhage and even

death. Marfan syndrome results

from mutations in the gene that

determines the structure of

fibrillin-1, a protein important to

connective tissue.

Osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is

characterized by fragile bones,

low muscle mass, and loose joints

and ligaments. There are several

identified types of osteogenesis

imperfecta, ranging in severity

from mild to lethal. The

appearance of people with

osteogenesis imperfecta varies

considerably, depending on the

particular form they have and its

severity. Some may have a blue

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or gray tint to the sclera (whites of

the eyes), thin skin, growth

deficiencies, and fragile teeth.

They may develop scoliosis,

respiratory problems, and hearing

loss. Also known as “brittle bone

disease,” this disorder is caused

by a mutation in one of several

genes that play a role in how the

body makes collagen, the main

component of connective tissue.

What Is Connective Tissue and

What Does Heritable Disorders

Mean?

Connective tissue is the material between the

cells of the body that gives tissues form and

strength. This “cellular glue” is also involved

in delivering nutrients to the tissue, and in the

special functioning of certain tissues.

Connective tissue is made up of dozens of

proteins, including collagens, proteoglycans,

and glycoproteins. The combination of these

proteins can vary between tissues.

The genes that encode these proteins can

harbor defects or mutations, which can affect

the functioning of certain properties of

connective tissue in selected tissues. When

this occurs, the result can be a heritable

disorder—one that can be inherited, or

passed from parent to child—of connective

tissue.

How Do People Get Gene

Alterations?

People with heritable disorders of connective

tissue inherit an altered gene either from one

or from both parents. We have two copies of

most genes: one inherited from each parent.

Males have one copy of each gene on the X

chromosome, because they have only one X

chromosome and one copy of each gene on

the Y chromosome. In contrast, females have

two copies of X chromosome genes, because

they have two X chromosomes.

Some genetic disorders require that only a

single copy of a gene be altered. These

disorders can be seen in many generations of

a family because the altered copy of the gene

is passed from parent to child (dominant

inheritance). The same disorder can occur in

a person without a family history of the

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condition if there is a new mutation in the

right gene at conception. Some disorders are

seen only when the person has received an

altered copy of the gene from each parent

(recessive inheritance); in these families, the

person with only a single copy is called a

“carrier” and is not actually affected.

If a mutation occurs on an X chromosome, it

generally produces a condition in which the

pattern of affected individuals in a family is

unusual. Often, women are carriers (that is,

they have only a single altered copy of the

gene), but males show the condition because

they do not have a second protective copy of

the gene. Such a condition is referred to as

“X-linked.”

Who Gets Heritable Disorders of

Connective Tissue?

Heritable disorders of connective tissue can

affect people of all racial and ethnic groups.

All ages and both sexes are affected. Many of

these disorders are rare. Some may not be

evident at birth, but only appear after a

certain age or after exposure to a particular

environmental stress.

Does Anything Increase the

Chances of Having a Genetic

Disease?

Several factors increase the likelihood that a

person will inherit an alteration in a gene. If

you are concerned about your risk—or the

risk to your children or future children—you

should talk to your health care provider or a

genetic counselor.

The following factors may increase the

chance of getting or passing on a genetic

disease:

parents who have a genetic disease

a family history of a genetic disease

parents who are closely related or

part of a distinct ethnic or geographic

community

parents who do not show disease

symptoms, but “carry” a disease gene

in their genetic makeup (this can be

discovered through genetic testing).

How Does Genetic Counseling

Help?

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People seek genetic counseling to make

better decisions about their lives and families.

Because genetic counselors understand how

genetic disorders are passed on through

families, they can help couples estimate the

risks of having children with genetic

diseases. They can also tell parents about

tests to determine if they are carrying certain

altered genes, tests for newborns who may

have inherited certain altered genes, and

tests that can be done in early pregnancy to

determine if a fetus either carries an altered

copy of a gene or is affected with a disorder.

The information derived from all these studies

can facilitate family planning.

Your health care team can help you find

genetic counseling if you wish to better

understand your or your child’s disease or

risk of disease.

What Are the Symptoms of a

Heritable Disorder of Connective

Tissue?

The symptoms are different for different

disorders. Some of them cause bone growth

problems. People with bone growth disorders

may have brittle bones or bones that are too

long or too short. Some cause people to be

unusually tall (Marfan syndrome) or short

(chondrodysplasias, osteogenesis

imperfecta), or to have head and facial

structure malformations (Apert syndrome,

Pfeiffer syndrome). In others, joints may be

stiff or immobile (fibrodysplasia ossificans

progressiva or FOP).

Some disorders affect the skin. For example,

Ehlers-Danlos syndrome results in stretchy or

loose skin, while in another connective tissue

disorder, cutis laxa, deficient elastic fibers

cause the skin to hang in folds. Epidermolysis

bullosa results in blistered skin.

Other tissues can be affected as well.

Pseudoxanthoma elasticum (PXE) causes

skin, eye, and heart problems, and closed-off

or blocked blood vessels. Marfan syndrome

and some forms of Ehlers-Danlos syndrome

lead to weak blood vessels.

It is critical for people with these disorders

and their family members to work closely with

their health care teams to get a proper

diagnosis and the best treatment. Symptoms

of heritable disorders of connective tissue are

extremely variable, and some disorders can

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pose severe health risks even when affected

individuals have no symptoms.

How Do Doctors Diagnose

Heritable Disorders of Connective

Tissue?

Diagnosis always rests first on a combination

of family history, medical history, and physical

examination. Because many of these

conditions are uncommon, the family

physician may suspect a diagnosis but be

uncertain about how to confirm it. At this

point, referral to experienced clinicians, often

medical geneticists, can be extremely

valuable to either confirm or exclude the

suspected diagnosis. Laboratory tests are

available to confirm the diagnosis for many

heritable disorders of connective tissue, but

not for all. Once a diagnosis is made,

laboratory studies may be available to

provide some or all of the following:

Prenatal testing to identify an affected

fetus and assist in family planning.

Newborn screening to spot a

condition that may become evident

later in life.

Carrier testing to identify adults who,

without symptoms, carry a genetic

mutation for a disease.

Predictive testing to spot people at

risk for developing a genetic

connective tissue disease later in life.

These tests are helpful for diseases

that run in the family.

What Treatments Are Available?

The term heritable disorders of connective

tissue refers to a wide range of disorders,

each requiring a specific program for

management and treatment. In most

instances, regular monitoring is important to

assess, for example, the diameter of the aorta

in people with Marfan syndrome, the extent of

scoliosis (spine curvature) in people with

osteogenesis imperfecta and those with some

forms of Ehlers-Danlos syndrome, and

whether there is protrusion of the spine into

the base of the skull in people with

osteogenesis imperfecta. For some

conditions, specific metabolic treatment is

useful, for example, vitamin B6 in people with

homocystinuria, a metabolic disorder

resulting from a liver enzyme deficiency. In

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others, drugs like beta-blockers are useful for

slowing the dilation of the aorta, and

bone-building drugs called bisphosphonates

may help strengthen fragile bones.

Maintaining general health through a

nutritious diet, exercise, and healthy lifestyle

habits is also important for people with all

heritable disorders of connective tissue.

What Research Is Being Conducted

on Heritable Disorders of

Connective Tissue?

The National Institute of Arthritis and

Musculoskeletal and Skin Diseases (NIAMS),

a part of the U.S. Department of Health and

Human Services’ National Institutes of Health

(NIH), is the lead federal agency for

connective tissue research. Several other

NIH institutes are also studying heritable

disorders of connective tissue. The NIAMS

supports research through grants to

scientists around the country, in national and

international clinical trials, and at the NIH

campus.

Scientists are working to better understand

these disorders at several levels: (1) to

identify the genes in which the mutations

reside, (2) to identify the mutations that result

in the clinical condition, (3) to understand

how these mutations result in the condition,

and (4) to use all available information about

the condition to plan new therapies and test

their use and value, both in animal models

and in affected individuals. Because most of

these conditions are uncommon, and

individuals with them are widely scattered, it

is often difficult to gather information about

the clinical course of the disorder and

assemble enough people to plan effective

clinical trials.

Recent research efforts include:

NIAMS-supported scientists have

made progress toward being able to

grow skin for people with a

debilitating and life-threatening skin

disease called recessive dystrophic

epidermolysis bullosa (RDEB). They

isolated cells from patients, corrected

the molecular defect, and grew the

modified cells into sheets of tissue

that they transplanted onto mice. After

successfully transplanting the

modified skin on mice, they were able

to launch a clinical trial of adults

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affected by RDEB.

Investigators supported by the NIAMS

are examining gene defects that lead

to abnormal elastin, the connective

tissue protein that allows arteries,

muscles, and other organs to respond

in certain ways to movement. Among

the findings so far, the investigators

have shown how elastin gene

mutations cause two specific

diseases: a skin disease (cutis laxa)

and a blood vessel disease

(supravalvular aortic stenosis).

Scientists hope to learn more about

how mutations affect elastin fiber and

tissue growth. They also hope to find

out how gene defects lead to the

development of elastin disease.

The NIAMS supports the Brittle Bone

Disorders Consortium of the Rare

Disease Clinical Research Network, a

multicenter initiative that focuses on

understanding and providing better

treatment options for rare diseases

characterized by bone fragility and

fractures.

Other NIAMS-supported research has

focused on:

the chemistry and biology of

elastin genes

collagen gene defects

(several types) that cause

bone diseases

collagen IV gene defects in

mice and humans (Apert

syndrome)

proteoglycans, a group of

proteins that maintain tissue

stiffness

fibroblasts, cells that form the

fibrous tissues in the body

cartilage, joints, and skin

layers.

Ongoing studies of aneurysms (weak

spots in blood vessel walls that

threaten to burst) are taking place at

several NIH institutes. Aneurysms can

prove deadly to people with Marfan

syndrome and other heritable

disorders of connective tissue.

At the NIH Eunice Kennedy Shriver

National Institute of Child Health and

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Human Development, scientists are

working with young patients who have

osteogenesis imperfecta. They are

learning more about the genetics of

the disease and the natural history of

the many secondary features

involved, as well as rehabilitation

techniques.

Clinical trials organized by the NIH

National Eye Institute have compared

different antiangiogenic compounds

(drugs that inhibit blood vessel

formation) for pseudoxanthoma

elasticum.

Scientists at the NIH National Institute

of Dental and Craniofacial Research

are carrying out clinical studies on

fibrous dysplasia of bone.

More information on research is available

from the following websites:

NIH Clinical Research Trials and You

was designed to help people learn

more about clinical trials, why they

matter, and how to participate. Visitors

to the website will find information

about the basics of participating in a

clinical trial, first-hand stories from

clinical trial volunteers, explanations

from researchers, and links on how to

search for a trial or enroll in a

research-matching program.

ClinicalTrials.gov offers up-to-date

information for locating federally and

privately supported clinical trials for a

wide range of diseases and

conditions.

NIH RePORTER is an electronic tool

that allows users to search a

repository of both intramural and

extramural NIH-funded research

projects from the past 25 years and

access publications (since 1985) and

patents resulting from NIH funding.

PubMed is a free service of the U.S.

National Library of Medicine that lets

you search millions of journal citations

and abstracts in the fields of

medicine, nursing, dentistry,

veterinary medicine, the health care

system, and preclinical sciences.

Where Can People Find More

Information About Heritable

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Disorders of Connective Tissue?

People with heritable disorders of connective

tissue can contact professional and support

groups that can supply more detailed

information than is found here. Some major

groups are listed below.

National Institute of Arthritis and

Musculoskeletal and Skin Diseases

(NIAMS)

Information Clearinghouse

National Institutes of Health

1 AMS Circle

Bethesda, MD 20892-3675

Phone: 301-495-4484

Toll free: 877-22-NIAMS (877-226-4267)

TTY: 301-565-2966

Fax: 301-718-6366

Email: NIAMSinfo@mail.nih.gov

Website: https://www.niams.nih.gov

If you need more information about available

resources in your language or another

language, please visit our website or contact

the NIAMS Information Clearinghouse at

NIAMSinfo@mail.nih.gov.

Other Resources

American Academy of Orthopaedic

Surgeons

Website: http://www.aaos.org (con

información en español)

American Academy of Dermatology

Website: http://www.aad.org

Coalition for Heritable Disorders of

Connective Tissue

Website: http://www.chdct2.org

Genetic Alliance

Website: http://www.geneticalliance.org (con

información en español)

National Organization for Rare Disorders

Website: http://www.rarediseases.org

National Society of Genetic Counselors

Website: http://www.nsgc.org

Dystrophic Epidermolysis Bullosa

Research Association of America, Inc.

Website: http://www.debra.org

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Ehlers-Danlos National Foundation

Website: http://www.ednf.org/

National Association for

Pseudoxanthoma Elasticum

Website: http://www.pxenape.org

National Marfan Foundation

Website: http://www.marfan.org

Osteogenesis Imperfecta Foundation

Website: http://www.oif.org

PXE International

Website: http://www.pxe.org

Key Words

Apert syndrome. One of a group of genetic

disorders, called acrocephalosyndactyly,

characterized by malformations of the skull,

face, hands, and feet. Apert syndrome is an

autosomal dominant trait due to a mutation in

a gene called FGFR2 (fibroblast growth

factor receptor 2).

Beta-blockers. A class of medications also

known as beta-adrenergic blockers that affect

the body’s response to certain nerve

impulses. This, in turn, decreases the rate

and force of the heart’s contractions, which

lowers blood pressure and reduces the

heart’s demand for oxygen. In addition to

treating high blood pressure, beta-blockers

may be used for angina, and to prevent heart

attacks, migraine headaches, and glaucoma.

Carrier. A person who carries a gene for a

recessive genetic disorder. The person has

the potential to pass the disorder on to his or

her child, but is not personally affected by the

disorder.

Chondrodysplasias. Once referred to as

dwarfism. A group of genetic disorders, often

caused by a single gene variation that affects

the structure or metabolism of the bone,

cartilage, or connective tissue.

Collagen. The principal protein of the skin,

bones, cartilage, tendons, and other

connective tissues.

Cutis laxa. Latin for loose or lax skin, cutis

laxa refers to an extremely rare connective

tissue disorder in which the skin lacks

elasticity and hangs in loose folds. Caused

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by underlying genetic defects in connective

tissue structure, the disorder can also result

in serious problems with vocal cords, bones,

cartilage, blood vessels, and vital internal

organs.

Dominant. A genetic trait (or genetically

transmitted disorder) that is evident when

only one copy of the gene for that trait is

present. Most dominant traits are due to

genes on the autosomes (nonsex

chromosomes). They affect males and

females equally.

Ehlers-Danlos syndrome (EDS). A

heritable connective tissue disease

characterized by easy bruising, joint laxity

(the ability to bend beyond normal range of

motion), lax skin, and tissue weakness.

Epidermolysis bullosa (EB). A potentially

disabling, disfiguring, and sometimes lethal

connective tissue disorder caused by defects

of several proteins in the skin, resulting in

skin blistering. Some forms of the disease

may involve the gastrointestinal tract, the

pulmonary system, muscles, or the bladder.

Fibrodysplasia ossificans progressiva

(FOP). An extremely rare disorder in which a

genetic mutation causes fibrous tissue such

as muscles, tendons, and ligaments to ossify,

or turn to bone, when damaged. The disease

is also characterized by a deformity of the big

toe.

Glycoprotein. An organic compound

composed of a protein and a carbohydrate

joined together. In the body, these

compounds have many uses and comprise

many of the proteins released by cells into

the blood and other fluids.

Heritable. Capable of being transmitted from

parent to child through genes.

Homocystinuria. A genetically transmitted

disease in which an enzyme deficiency

permits the buildup of the amino acid

homocyteine. The result, if not treated, can

be mental retardation, blood vessel disease,

and atherosclerosis (hardening of the

arteries).

Marfan syndrome. A heritable disorder of

connective tissue resulting from mutations in

the gene that specifies the genetic code for

fibrillin-1, a protein important to connective

tissue. The disorder is characterized by

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excessively long leg bones and long

“spider-like” fingers. Other problems include

skeletal malformations, abnormal position of

the lens of the eye, and enlargement at the

beginning part of the aorta, the major vessel

carrying blood away from the heart. If left

untreated, an enlarged aorta can lead to

hemorrhage and even death.

Mutations. Changes in genes that can occur

randomly or as a result of some factor in the

environment.

Osteogenesis imperfecta (OI). A condition

that results from mutation in two genes that

make type I collagen, a protein important to

bones and teeth. These mutations cause the

body to either make too little collagen or

poor-quality collagen. The result includes

bones that fracture easily, low muscle mass,

and joints and ligaments that move beyond

their intended range of motion.

Pfeiffer syndrome. Also called type V

acrocephalosyndactyly, Pfeiffer syndrome is

one of a group of genetic disorders

characterized by malformations of the skull,

face, hands, and feet. Like the more common

Apert syndrome, Pfeiffer syndrome is caused

by a mutation in the FGFR2 (fibroblast growth

factor receptor 2) gene.

Proteoglycans. A class of glycoproteins that

perform various functions and serve as the

“filler” substance between the cells. An

inability to break down proteoglycans is

characteristic of a series of genetic disorders

called mucopolysaccharidoses.

Pseudoxanthoma elasticum (PXE). A rare

disorder of degeneration of the elastic fibers

with tiny areas of calcification in the skin, the

back of the eyes (retinae), and the blood

vessels. Pseudoxanthoma elasticum typically

causes skin abnormalities, eye abnormalities

that can lead to blindness, atherosclerosis

(hardening of the arteries), mitral valve

prolapse, and fragile blood vessels that can

lead to problems with circulation and

abnormal bleeding into internal organs,

including the bowel. Pseudoxanthoma

elasticum is inherited either as an autosomal

recessive or as an autosomal dominant trait.

Recessive. A genetic trait or disorder that is

usually expressed when only two copies of a

gene for that trait, one from each parent, are

present.

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Scoliosis. A lateral side-to-side curvature of

the spine. In most cases the cause is not

known, but it may be more common in people

who have a family history of the condition.

Treatment can include braces, physical

therapy, and, in some cases, surgery.

Acknowledgments

The NIAMS gratefully acknowledges the

assistance of the following individuals in the

preparation and review of the original

version of this booklet: Bernadette Tyree,

Ph.D., NIAMS/ NIH; Priscilla Ciccarielo,

Director Emeritus, National Marfan

Foundation, Port Washington, NY; Harry C.

Dietz, M.D., Johns Hopkins University

School of Medicine, Baltimore, MD; Carolyn

Levering and Eileen Masciale, National

Marfan Foundation; Francisco Ramirez,

M.D., Mount Sinai School of Medicine of the

City University of New York, New York, NY;

and Joel Rosenbloom, M.D., Ph.D.,

University of Pennsylvania, Philadelphia,

PA.

The mission of the National Institute of

Arthritis and Musculoskeletal and Skin

Diseases (NIAMS), a part of the U.S.

Department of Health and Human Services’

National Institutes of Health (NIH), is to

support research into the causes, treatment,

and prevention of arthritis and

musculoskeletal and skin diseases; the

training of basic and clinical scientists to

carry out this research; and the dissemination

of information on research progress in these

diseases. The NIAMS Information

Clearinghouse is a public service sponsored

by the NIAMS that provides health

information and information sources.

Additional information can be found on the

NIAMS website at http://www.niams.nih.gov.

For Your Information

This publication contains information about

medications used to treat the health condition

discussed here. When this publication was

developed, we included the most up-to-date

(accurate) information available.

Occasionally, new information on medication

is released.

For updates and for any questions about any

medications you are taking, please contact

U.S. Food and Drug Administration

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Toll free: 888-INFO-FDA

(888-463-6332)

Website: http://www.fda.gov

For additional information on specific

medications, visit Drugs@FDA at

www.accessdata.fda.gov/scripts

/cder/drugsatfda. Drugs@FDA is a

searchable catalog of FDA-approved drug

products.

This publication is not copyrighted. Readers

are encouraged to duplicate and distribute as

many copies as needed.

Additional copies of this publication are

available from:

National Institute of Arthritis and

Musculoskeletal and Skin

Diseases (NIAMS)

Information Clearinghouse

National Institutes of Health

1 AMS Circle

Bethesda, MD 20892-3675

Phone: 301-495-4484

Toll free: 877-22-NIAMS

(877-226-4267)

TTY: 301-565-2966

Fax: 301-718-6366

Email: NIAMSinfo@mail.nih.gov

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NIH Publication No.: 16-7843

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