Gabriele-de Vries syndrome is a rare genetic condition present at birth. People with this syndrome may experience delays in their development and intellectual disability. They may also have issues with movement and walking. A variety of atypical facial features may also be present. These may include an asymmetric face, a broad forehead, ears that are rotated towards the back. Features also include a thick lower lip, a small lower jaw, or a split in the roof of the mouth. People with this syndrome might also have problems with their eyes, kidneys, heart, and joints. Some individuals may also present with behavioral differences. These may include being on the autism spectrum, hyperactivity, or anxiety.
Summary
Gabriele-de Vries syndrome is a rare genetic condition present at birth. People with this syndrome may experience delays in their development and intellectual disability. They may also have issues with movement and walking. A variety of atypical facial features may also be present. These may include an asymmetric face, a broad forehead, ears that are rotated towards the back. Features also include a thick lower lip, a small lower jaw, or a split in the roof of the mouth. People with this syndrome might also have problems with their eyes, kidneys, heart, and joints. Some individuals may also present with behavioral differences. These may include being on the autism spectrum, hyperactivity, or anxiety.Gabriele-de Vries syndrome is a rare genetic condition present at birth. People with this syndrome may experience delays in their development and intellectual disability. They may also have issues with movement and walking. A variety of atypical facial features may also be present. These may include an asymmetric face, a broad forehead, ears that are rotated towards the back. Features also include a thick lower lip, a small lower jaw, or a split in the roof of the mouth. People with this syndrome might also have problems with their eyes, kidneys, heart, and joints. Some individuals may also present with behavioral differences. These may include being on the autism spectrum, hyperactivity, or anxiety.
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Resource(s) for Medical Professionals and Scientists on This Disease:
GeneReviewsprovides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
About Gabriele de Vries syndrome
Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
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 are available to help find a specialist, or advocacy and support for this specific disease.
Gabriele de Vries syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.
When Do Symptoms of Gabriele de Vries 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.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear during Pregnancy and as a Newborn.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.
The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
73 Symptoms
73 Symptoms
73 Symptoms
Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Description and Synonyms
Frequency
Abnormal cerebral white matter morphology
An abnormality of the cerebral white matter.
Synonyms:Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations
Frequency
Uncommon
Occasional
Occasional
Always
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.
Frequency
Uncommon
Frequent
Frequent
Always
Absent speech
Complete lack of development of speech and language abilities.
Synonyms:Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal
Frequency
Uncommon
Occasional
Occasional
Always
Agenesis of corpus callosum
Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
Synonyms:Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum
Frequency
Uncommon
Occasional
Occasional
Always
Anxiety
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Synonyms:Anxiety; Anxiousness; Excessive, persistent worry and fear
Frequency
Uncommon
Occasional
Occasional
Always
Astigmatism
A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.
Synonyms:Abnormal curving of the cornea or lens of the eye; Astigmatism
Frequency
Uncommon
Occasional
Occasional
Always
Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Synonyms:Autism
Frequency
Uncommon
Occasional
Occasional
Always
Autistic behavior
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Synonyms:ASD; Pervasive developmental disorder
Frequency
Uncommon
Occasional
Occasional
Always
Behavioral abnormality
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Synonyms:Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead
Frequency
Uncommon
Very frequent
Very frequent
Always
Bulbous nose
Increased volume and globular shape of the anteroinferior aspect of the nose.
Synonyms:Bulbous nose
Frequency
Uncommon
Very frequent
Very frequent
Always
Craniosynostosis
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Synonyms:Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature fontanel closure; Premature suture closure
Frequency
Uncommon
Occasional
Occasional
Always
Cryptorchidism
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Decreased response to growth hormone stimulation test
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Synonyms:Delayed walking
Frequency
Uncommon
Frequent
Frequent
Always
Delayed myelination
Delayed myelination.
Frequency
Uncommon
Occasional
Occasional
Always
Delayed speech and language development
A degree of language development that is significantly below the norm for a child of a specified age.
Synonyms:Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay
Frequency
Uncommon
Frequent
Frequent
Always
Distal arthrogryposis
An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Synonyms:Long, narrow head; Tall and narrow skull
Frequency
Uncommon
Occasional
Occasional
Always
Downslanted palpebral fissures
The palpebral fissure inclination is more than two standard deviations below the mean.
Synonyms:Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted
Frequency
Uncommon
Frequent
Frequent
Always
Dystonia
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Synonyms:Dystonic movements
Frequency
Uncommon
Occasional
Occasional
Always
Ebstein anomaly of the tricuspid valve
Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.
Synonyms:Ebstein's anomaly; Ebstein's anomaly of the tricuspid valve; Ebstein's malformation
Frequency
Uncommon
Occasional
Occasional
Always
Esophageal atresia
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Synonyms:Birth defect in which part of esophagus did not develop
Frequency
Uncommon
Occasional
Occasional
Always
Facial asymmetry
An abnormal difference between the left and right sides of the face.
Synonyms:Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face
Frequency
Uncommon
Frequent
Frequent
Always
Facial hypotonia
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Frequency
Uncommon
Frequent
Frequent
Always
Finger joint hypermobility
Synonyms:Increased mobility in finger joint
Frequency
Uncommon
Occasional
Occasional
Always
Frontal upsweep of hair
Upward and/or sideward growth of anterior hair.
Synonyms:Cowlick; Frontal Cowlick; Frontal upsweep of hair; Upswept frontal hair
Frequency
Uncommon
Occasional
Occasional
Always
Gastrostomy tube feeding in infancy
Feeding problem necessitating gastrostomy tube feeding.
Frequency
Uncommon
Frequent
Frequent
Always
Gliosis
Gliosis is the focal proliferation of glial cells in the central nervous system.
Synonyms:Cerebral gliosis; Excess astrocytes in brain
Frequency
Uncommon
Occasional
Occasional
Always
Global developmental delay
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development
Frequency
Uncommon
Very frequent
Very frequent
Always
Hallux valgus
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Synonyms:Bunion; Lateral deviation of great toe; Lateral deviation of halluces
Frequency
Uncommon
Occasional
Occasional
Always
High palate
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Synonyms:Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched
Frequency
Uncommon
Occasional
Occasional
Always
Hydronephrosis
Severe distention of the kidney with dilation of the renal pelvis and calices.
Frequency
Uncommon
Occasional
Occasional
Always
Hyperextensible skin
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Synonyms:Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum
Frequency
Uncommon
Occasional
Occasional
Always
Hypothyroidism
Deficiency of thyroid hormone.
Synonyms:Low T4; Underactive thyroid
Frequency
Uncommon
Occasional
Occasional
Always
Hypotonia
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Synonyms:Narrowing of the tear duct; Nasolacrimal duct stenosis
Frequency
Uncommon
Occasional
Occasional
Always
Low-set ears
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Synonyms:Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia
Frequency
Uncommon
Occasional
Occasional
Always
Malar flattening
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Synonyms:Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening
Frequency
Uncommon
Very frequent
Very frequent
Always
Micrognathia
Developmental hypoplasia of the mandible.
Synonyms:Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible
Frequency
Uncommon
Occasional
Occasional
Always
Neuroblastoma
Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.
Synonyms:Partial knee cap dislocation; Subluxation of patella
Frequency
Uncommon
Occasional
Occasional
Always
Patent foramen ovale
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Synonyms:Persistent foramen ovale
Frequency
Uncommon
Occasional
Occasional
Always
Periorbital fullness
Increase in periorbital soft tissue.
Synonyms:Periorbital puffiness; Periorbital swelling; Puffiness around eye; Puffy eyes; Swelling around the eyes
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Synonyms:Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection
Frequency
Uncommon
Occasional
Occasional
Always
Sandal gap
A widely spaced gap between the first toe (the great toe) and the second toe.
Synonyms:Gap between 1st and 2nd toes; Gap between first and second toe; Increased space between first and second toes; Sandal gap between first and second toes; Space between great toe and second toe; Wide space between 1st, 2nd toes; Wide space between first and second toes; Wide-spaced big toe; Widely spaced 1st-2nd toes; Widely spaced first and second toes; Widened gap 1st-2nd toes; Widened gap first and second toe
Frequency
Uncommon
Occasional
Occasional
Always
Severe global developmental delay
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Synonyms:Global developmental delay, severe
Frequency
Uncommon
Occasional
Occasional
Always
Small for gestational age
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Synonyms:Birth weight less than 10th percentile; Low birth weight; Small for gestational age
Frequency
Uncommon
Occasional
Occasional
Always
Sparse eyebrow
Decreased density/number of eyebrow hairs.
Synonyms:Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows
Frequency
Uncommon
Occasional
Occasional
Always
Strabismus
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Synonyms:Cross-eyed; Squint; Squint eyes
Frequency
Uncommon
Frequent
Frequent
Always
Sydney crease
Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.
Frequency
Uncommon
Occasional
Occasional
Always
Telecanthus
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Synonyms:Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance
Frequency
Uncommon
Occasional
Occasional
Always
Thick lower lip vermilion
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Synonyms:Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Thick vermilion border of lower lip
Frequency
Uncommon
Very frequent
Very frequent
Always
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Synonyms:Tremor; Tremors
Frequency
Uncommon
Occasional
Occasional
Always
Ureteropelvic junction obstruction
Blockage of urine flow from the renal pelvis to the proximal ureter.
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Synonyms:'Waddling' gait; Waddling walk
Frequency
Uncommon
Occasional
Occasional
Always
Diagnostic Journey
On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:
Find disease-specific information to discuss with your healthcare providers.
Ask for diagnostic tests.
Request referrals to specialists.
Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis
Your Diagnostic Team
How can a diagnostic team help?
Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.
Diagnostic teams for Gabriele de Vries syndrome may include:
Multidisciplinary Care Centers
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific 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. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.
Rare Disease Experts
How can you find a rare disease expert?
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific 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. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.
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. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and play an important role in medical advances, including 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:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
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 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.
Join 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.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
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 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.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 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.
Read More
Read Less
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.
Join 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.
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.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
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.
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.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases.
GARD uses data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Orphanet is an online database of rare diseases and orphan drugs that provides aggregated data coordinated by INSERM-US14 in Paris.