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Disease Information

Summary

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics. The major characteristics of CHARGE syndrome are common in this disorder and occur less frequently in other disorders. Most individuals with CHARGE syndrome have a gap or hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and may impair a person's vision, depending on its size and location. Some affected individuals also have abnormally small or underdeveloped eyes (microphthalmia). In many people with CHARGE syndrome, one or both nasal passages are narrowed (choanal stenosis) or completely blocked (choanal atresia), which can cause difficulty breathing. Affected individuals frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. People with CHARGE syndrome also typically have middle and inner ear abnormalities, which can contribute to hearing problems, and unusually shaped external ears. While the minor characteristics of CHARGE syndrome are common in this disorder, they are also frequently present in people without the disorder. The minor characteristics include heart defects; slow growth starting in late infancy; delayed development of motor skills, such as sitting unsupported and walking; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected individuals frequently have hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, males with CHARGE syndrome are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). Abnormalities of external genitalia are seen less often in affected females. Puberty can be incomplete or delayed in affected males and females. Another minor feature of CHARGE syndrome is tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea. Most people with CHARGE syndrome also have distinctive facial features, including a square-shaped face and differences in appearance between the right and left sides of the face (facial asymmetry). Affected individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication. Less common features of CHARGE syndrome include kidney abnormalities; immune system problems; abnormal curvature of the spine (scoliosis or kyphosis); and limb abnormalities, such as extra fingers or toes (polydactyly), missing fingers or toes (oligodactyly), an inward and upward turning foot (club foot), and abnormalities of the long bones of the arms and legs.

About CHARGE syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:May start to appear during Pregnancy and as a Newborn.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
  • Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Kidney diseases(Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.)Endocrine diseases(Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)Urinary and Reproductive diseases(Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.)

Resource(s) for Medical Professionals and Scientists on This Disease:

  • ClinGen provides expert-reviewed information on genes and gene variants for use in research and medicine.
  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • Orphanet provides GARD with information for this disease.
  • RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.

Resource(s) for Medical Professionals and Scientists on This Disease:

  • ClinGen provides expert-reviewed information on genes and gene variants for use in research and medicine.
  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • Orphanet provides GARD with information for this disease.
  • RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.

About CHARGE syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:May start to appear during Pregnancy and as a Newborn.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
  • Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Kidney diseases(Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.)Endocrine diseases(Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).)Birth defects(Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.)Urinary and Reproductive diseases(Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.)

Causes

What Causes This Disease?

Genetic Mutations

Changes in your genes (also called variants) cause CHARGE syndrome.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Genetic Mutations

Changes in your genes (also called variants) cause CHARGE syndrome.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Known Genetic Mutations

CHARGE syndrome is caused by genetic mutations in the following known gene(s):

CHD7
Learn more about these genes by searching them on the National Library of Medicine (NLM).

Given these known genetic mutation(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease or can provide other useful information to your health care team. Learn more about genetic testing from the National Human Genome Research Institute (NHGRI).

Can diseases be passed down from parent to child?

A biological parent can sometimes pass down genetic changes, called mutations, that cause a disease or increase the chances of developing it. This is called inheritance. Knowing if other family members have had the disease, also known as your family health history, can give your medical team important information. The Surgeon General offers a tool to help you collect your family health history.

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of CHARGE syndrome Begin?

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
  1. Prenatal Selected
    Before Birth
  2. Newborn Selected
    Birth-4 weeks
  3. Infant
    1-23 months
  4. Child
    2-11 years
  5. Adolescent
    12-18 years
  6. Adult
    19-65 years
  7. Older Adult
    65+ years
Symptoms may start to appear during Pregnancy and as a Newborn.
This information comes from Orphanet

Symptoms

You may have one or more symptoms, and they may be mild or severe. Having some or all of these symptoms does not mean you have this disease. Only a health care provider can diagnose you.

Common

Many people have these, but not everyone.

  • Abnormal aortic valve morphology
  • Abnormal cardiac septum morphology
  • Abnormal cardiovascular system morphology
  • Abnormal cranial nerve morphology
  • Abnormal morphology of female internal genitalia
  • Abnormal soft palate morphology
  • Abnormality of the inner ear
  • Abnormally shaped ears (Abnormal pinna morphology)
  • Abnormally small eyeball (Microphthalmia)
  • Absence of eyeballs (Anophthalmia)
  • Absent/small ear lobes (Aplasia/Hypoplasia of the earlobes)
  • Acid reflux (Gastroesophageal reflux)
  • Anterior hypopituitarism
  • Aortic arch aneurysm
  • Attention deficit (Attention deficit hyperactivity disorder)
  • Autism
  • Bell's palsy (Facial palsy)
  • Birth defect that causes a hole in the innermost layer at the back of the eye (Chorioretinal coloboma)
  • Blockage of the rear opening of the nasal cavity (Choanal atresia)
  • Cat eye (Iris coloboma)
  • Cleft of scrotum (Bifid scrotum)
  • Cross-eyed (Strabismus)
  • Delayed eruption of teeth
  • Delayed puberty
  • Depressed nasal bridge
  • Dimple chin
  • Drooping upper eyelid (Ptosis)
  • Ears rotated toward back of head (Posteriorly rotated ears)
  • Facial asymmetry
  • Feeding difficulties in infancy
  • Global developmental delay
  • Growth delay as children (Postnatal growth retardation)
  • Hearing impairment
  • High levels of amniotic fluid (Polyhydramnios)
  • Hypogonadotropic hypogonadism
  • Hypoplasia of the semicircular canal
  • Intellectual disability
  • Interrupted aortic arch
  • Involuntary, rapid, rhythmic eye movements (Nystagmus)
  • Lost smell (Anosmia)
  • Low muscle tone (Hypotonia)
  • Narrow face
  • Narrow mouth
  • Notched pupil (Coloboma)
  • Obsessive compulsive behavior (Compulsive behaviors)
  • Optic atrophy
  • Overfolded ears (Overfolded helix)
  • Patent ductus arteriosus
  • Poor swallowing (Dysphagia)
  • Short penis (Micropenis)
  • Short stature
  • Tetralogy of Fallot
  • Underdeveloped labia (Labial hypoplasia)
  • Undescended testes (Cryptorchidism)

Uncommon

Some people have these, but most people do not.

  • Abnormality of bone mineral density
  • Abnormality of immune system physiology
  • Abnormality of tear production (Lacrimation abnormality)
  • Abnormality of the eye
  • Abnormality of the ribs (Abnormal rib morphology)
  • Abnormality of the shankbone (Abnormal tibia morphology)
  • Abnormality of vision
  • Abnormally small skull (Microcephaly)
  • Absent/small cerebellum (Aplasia/Hypoplasia of the cerebellum)
  • Adrenal abnormalities (Abnormality of the adrenal glands)
  • Aqueductal stenosis
  • Cheekbone underdevelopment (Hypoplasia of the zygomatic bone)
  • Cleft eyelid (Eyelid coloboma)
  • Cleft palate
  • Cleft upper lip
  • Cranial nerve paralysis
  • Dandy-Walker malformation
  • Eye folds (Epicanthus)
  • Highly arched eyebrow
  • Holoprosencephaly
  • Horseshoe kidney
  • Hydronephrosis
  • Missing part of vertebrae (Hemivertebrae)
  • More than five fingers or toes on hands or feet (Polydactyly)
  • Notched thighbone (Bifid femur)
  • Omphalocele
  • Permanent curving of the pinkie finger (Clinodactyly of the 5th finger)
  • Preauricular skin tag
  • Prenatal growth deficiency (Intrauterine growth retardation)
  • Respiratory impairment (Respiratory insufficiency)
  • Scoliosis
  • Short fingers or toes (Brachydactyly)
  • Small ears (Microtia)
  • Softening of voice box tissue (Laryngomalacia)
  • Talipes
  • Tracheoesophageal fistula
  • Umbilical hernia
  • Vesicoureteral reflux
  • Webbed neck
  • Wide-set eyes (Hypertelorism)
This information comes from the Human Phenotype Ontology (HPO)

Navigating Health Care Decisions

On average, it can take more than six years to receive an accurate diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and patients often need to visit multiple specialists or seek second opinions to get answers.

If a diagnosis remains unclear, visiting a multidisciplinary care center or university hospital may help. These centers bring together teams of specialists who can work together to evaluate symptoms and coordinate a diagnosis. This team-based approach is also helpful after a diagnosis, when managing care for rare diseases.

Because only about 5% of rare diseases have FDA-approved treatments, finding the right healthcare team to manage your symptoms and overall health is essential. People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers. Building a care team that understands your needs can make a significant difference in your quality of life.

Your Health Care Team

Why is building the right health care team important?

Building the right health care team is key to the diagnosis, treatment, and management of your long-term health journey living with a rare disease. Start by choosing a primary care provider (PCP). Your PCP will be your main point of contact and help coordinate care with other medical professionals. Your PCP may order tests or refer you to specialists. To find a PCP near you, use the Medicare provider search tool and enter your location and “Primary Care Provider.”

Seeing multiple specialists is important for people with rare diseases because these conditions often affect many parts of the body and require care from doctors with different expertise. Most primary care providers may not be familiar with rare diseases, so involving specialists can lead to a more accurate diagnosis and better care. A coordinated team approach ensures that all symptoms are addressed and that care is well-managed. It can also connect patients with the latest research or treatment options.

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.

These specialists may help in the diagnosis, management, and treatment of CHARGE syndrome:

Allergists and immunologists are doctors with specialized training in diagnosing and managing conditions related to the immune system. They often care for people with allergies, asthma, chronic sinus or lung infections, immune deficiencies, or other conditions where the body’s immune response is not working properly. These specialists may use blood tests or skin tests to identify specific substances that trigger allergic or immune responses. They can also evaluate whether a person’s immune system is functioning as it should and help manage long-term or hard-to-treat immune-related conditions. Treatment may include medications, allergy shots, or therapies that help regulate or support the immune system. In some cases, they may help identify whether symptoms are related to a rare immune disorder that requires more targeted care.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral, or use this directory  provided by the American Academy of Allergy, Asthma, and Immunology to find a specialist.
Anterior segment specialists are eye doctors with advanced training in diseases that affect the front part of the eye, such as the cornea, iris, and lens. They manage a variety of eye diseases, from common issues like cataracts to complex, rare, or genetic diseases that involve the anterior segment. Anterior segment specialists may perform surgeries or other treatments to improve vision and eye health.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by the American Academy of Ophthalmology to search for an anterior segment specialist in your area. Use the dropdown menu to select "Cataract/Anterior Segment". 
Neurologists are doctors with specialized training in diagnosing and treating conditions that affect the brain, spinal cord, and nerves. These parts of the nervous system help control how the body moves, feels, and thinks. Neurologists often care for people with seizures, memory problems, muscle weakness, movement disorders, and inherited conditions such as muscular dystrophies. To better understand a person's symptoms, neurologists may use imaging tests that show the brain or spine, or tests that measure the brain’s electrical activity.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Board of Psychiatry and Neurology to find a specialist. 
Otolaryngologists, also known as ear, nose, and throat doctors, are specialists trained to diagnose and manage conditions that affect the ears, nose, throat, and related areas of the head and neck. They commonly treat chronic ear infections, sinus conditions, voice or throat issues, hearing loss, and balance problems. Some may also manage cancers or inherited conditions affecting this region and may focus on specific areas like pediatric ENT or head and neck tumors.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral, or use this directory provided by the American Academy of Otolaryngology–Head and Neck Surgery to find a specialist.
Ophthalmologists are doctors with specialized training in managing serious eye problems, including those that require surgery. They may have additional experience with rare or inherited eye diseases, birth defects, or eye conditions linked to the nervous or immune system. Some ophthalmologists focus on specific areas, such as diseases of the retina or cancers of the eye. They may use imaging, vision tests, and lab work to diagnose and guide treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Academy of Ophthalmology to find a specialist.
Geneticists are doctors trained to diagnose and manage conditions caused by genetic changes, birth defects, or metabolic disorders. Metabolic disorders affect how the body makes or uses energy. Geneticists often work alongside genetic counselors to review family history, discuss genetic risks, explain testing options, and interpret genetic test results. They help people understand how inherited conditions may affect them and their families.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Medical Genetics and Genomics to find a specialist.
Cardiologists are doctors with specialized training in diagnosing and managing conditions that affect the heart and blood vessels. They commonly treat people with high blood pressure, heart rhythm problems, heart failure, or inherited heart conditions. Some cardiologists have additional expertise in managing rare or complex heart diseases that may be harder to detect. To assess heart health, cardiologists may use imaging tests, blood tests, or heart monitors that track rhythm and activity over time. Treatment can include medications, lifestyle changes, and procedures such as placing stents or implanting devices to help regulate the heartbeat. Cardiologists may also coordinate care with surgeons for structural heart problems or evaluate whether heart conditions are inherited.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by Medicare to search for a specialist. Search using the keyword “Cardiology.”
Endocrinologists are doctors trained to diagnose and manage diseases related to hormones. Hormones are chemical messengers that help coordinate many body functions, including metabolism, growth, and reproduction. Endocrinologists commonly treat conditions such as diabetes, thyroid disorders, and certain hormone-related cancers. They also care for people with concerns about growth or sexual development. Treatment options may include medications, hormone replacement therapy, or surgery, depending on the condition.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the Endocrine Society to find a specialist.
Nephrologists are doctors with specialized training in diagnosing and managing conditions that affect the kidneys. The kidneys help control blood pressure and maintain the body’s balance of fluids and minerals. Nephrologists commonly care for people with kidney stones, kidney infections, chronic kidney disease, and kidney failure. They use blood tests, urine tests, and imaging studies to diagnose kidney problems and monitor how well treatments are working. They also help manage how kidney conditions impact other parts of the body.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral, or use this directory provided by Medicare to search for a specialist. Search using the keywords “Nephrology.”
Maternal-fetal medicine specialists are obstetricians with advanced training in managing high-risk pregnancies. They focus on identifying and addressing health issues that could affect the mother, fetus, or both during pregnancy. These specialists may have experience managing rare or complicated pregnancy conditions related to genetic diseases, birth defects, infections, or chronic illnesses like diabetes or hypertension. Maternal-fetal medicine specialists may perform detailed ultrasounds, genetic testing, or other diagnostic procedures.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your PCP for a referral, or use this directory by Medicare to search for a maternal-fetal medicine specialist in your area. Search using the keywords “maternal and fetal medicine.”

Urologists are doctors with specialized training in diagnosing and treating conditions that affect the urinary system in both males and females, as well as the male reproductive system. They often manage urinary tract infections, kidney stones, bladder control issues, prostate conditions, and cancers involving these organs. Urologists use imaging, lab tests, or procedures to diagnose and guide treatment. Some may specialize in specific areas such as pediatric or cancer-related urology.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for a urologist in your area. Search using the keywords “Urology.”
Obstetricians and gynecologists (OB-GYN’s) are doctors with specialized training in caring for the female reproductive system. Gynecology focuses on reproductive health throughout a woman’s life, while obstetrics involves the care of women during pregnancy, childbirth, and recovery after birth. They help manage menstrual issues, pelvic pain, infertility, and conditions such as endometriosis, fibroids, ovarian cysts, and reproductive cancers. Some may have additional training in high-risk pregnancies, rare disorders, or inherited conditions.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Obstetricians and Gynecologists to find a specialist.

Multidisciplinary Care Centers

Is It Time to Get a Second Opinion or Specialized Evaluation?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but are still searching for a diagnosis, it may be time to visit an academic medical center or, for pediatric patients, a children's hospital. Academic medical centers and children's hospitals, often called multidisciplinary care centers, typically bring together specialists from different fields to work together on complex cases like rare diseases.

Multidisciplinary care centers may offer more coordinated care and be involved in clinical research, which may help reduce the time to diagnosis and provide access to emerging diagnostic tools. Specialists at these centers may have a deeper understanding of rare diseases and serve as a resource when you'd like a second opinion, particularly when test results or treatment plans are not delivering expected results.

Find hospitals that may partner with medical schools and programs in your area. 

Children’s hospitals and large teaching hospitals may also offer dedicated specialists and programs for pediatric patients with undiagnosed or rare diseases. These programs bring pediatric experts together in one place and may provide more coordinated care for your child.

Search for children's or university hospitals in your area.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis, care management, or treatment plan remains unclear despite extensive efforts by your PCP and specialists, it may be time to find a rare disease expert for your disease, if available. A rare disease expert is a medical provider that has knowledge or training on specific rare disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals, sometimes called centers of excellence. Centers of Excellence commit to sharing knowledge and best practices that can lead to improved care and treatment for individuals living with a rare disease. 

You can also contact a GARD Information Specialist for help finding experts, centers of excellence, or clinics that focus on your disease.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with CHARGE syndrome:

Find Your Community

How can patient organizations help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources


Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.


View GARD's criteria for including patient organizations, which can be found under the FAQs on our About GARD page. Request an update or to have your organization added to GARD. 

Patient Organizations

10 Organizations

CHARGE Syndrome Foundation

People With

CHARGE syndrome

Country

United States

World Craniofacial Foundation

People With

Craniofacial anomalies

Helpful Links
Country

United States

Children's Craniofacial Association

People With

Craniofacial anomalies

Country

United States

FACES: The National Craniofacial Association

People With

Craniofacial anomalies

Country

United States

myFace

People With

Craniofacial anomalies

Country

United States

Resolve: The National Infertility Association

People With

Infertility

Helpful Links
Country

United States

National Kidney Foundation

People With

Kidney diseases

Helpful Links
Country

United States

Renal Support Network

People With

Kidney diseases

Country

United States

Pituitary Network Association

People With

Pituitary deficiencies

Helpful Links
Country

United States

Immune Deficiency Foundation

People With

Primary immunodeficiency

Helpful Links
Country

United States

OrganizationPeople WithHelpful LinksCountry
CHARGE Syndrome FoundationCHARGE syndromeUnited States
World Craniofacial FoundationCraniofacial anomaliesList of ExpertsUnited States
Children's Craniofacial AssociationCraniofacial anomaliesUnited States
FACES: The National Craniofacial AssociationCraniofacial anomaliesUnited States
myFaceCraniofacial anomaliesUnited States
Resolve: The National Infertility AssociationInfertilityList of ExpertsUnited States
National Kidney FoundationKidney diseasesResearch RegistryUnited States
Renal Support NetworkKidney diseasesUnited States
Pituitary Network AssociationPituitary deficienciesList of ExpertsUnited States
Immune Deficiency FoundationPrimary immunodeficiencyList of ExpertsUnited States

Participate in Research

Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.

Learn more about clinical trials from this National Institutes of Health webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Why may you want to consider joining the All of Us Research Program?

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease.
GARDGenetic and Rare Diseases
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Contact GARD
Please allow 2 to 10 business days for us to respond.

Sources & References

Last Updated: September 2026