Questions about rare diseases?

Disease Information

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

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.
  • Categories:BirthdefectsGeneticdiseasesNeurologicaldiseases

Causes

What Causes This Disease?

Genetic Mutations

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.

Synonyms:Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormality of the dentition

Any abnormality of the teeth.

Synonyms:Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies

Frequency
Uncommon
Occasional
Occasional
Always
Abnormality of upper lip vermillion

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.

Synonyms:ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder

Frequency
Uncommon
Occasional
Occasional
Always
Autism

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.

Synonyms:Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral/psychiatric abnormalities; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances

Frequency
Uncommon
Frequent
Frequent
Always
Breast hypoplasia

Underdevelopment of the breast.

Synonyms:Underdeveloped breasts

Frequency
Uncommon
Occasional
Occasional
Always
Broad forehead

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.

Synonyms:Cryptorchism; Undescended testes; Undescended testis

Frequency
Uncommon
Occasional
Occasional
Always
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.

Synonyms:Growth hormone deficiency; Somatotropin deficiency

Frequency
Uncommon
Occasional
Occasional
Always
Delayed ability to walk

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.

Frequency
Uncommon
Occasional
Occasional
Always
Distal lower limb amyotrophy

Muscular atrophy of distal leg muscles.

Synonyms:Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal

Frequency
Uncommon
Occasional
Occasional
Always
Dolichocephaly

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).

Synonyms:Decreased facial muscle tone; Hypotonic facies; Low facial muscle tone; Reduced facial muscle tone

Frequency
Uncommon
Occasional
Occasional
Always
Feeding difficulties in infancy

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:Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin

Frequency
Uncommon
Occasional
Occasional
Always
Hypermetropia

An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.

Synonyms:Farsightedness; Hyperopia; Long-sightedness

Frequency
Uncommon
Occasional
Occasional
Always
Hypoplasia of the corpus callosum

Underdevelopment of the corpus callosum.

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:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia

Frequency
Uncommon
Frequent
Frequent
Always
Intellectual disability, mild

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

Synonyms:Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation

Frequency
Uncommon
Frequent
Frequent
Always
Intellectual disability, moderate

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.

Synonyms:IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation

Frequency
Uncommon
Frequent
Frequent
Always
Intellectual disability, severe

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.

Synonyms:Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation

Frequency
Uncommon
Occasional
Occasional
Always
Intrauterine growth retardation

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Synonyms:In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant

Frequency
Uncommon
Frequent
Frequent
Always
Lacrimal duct stenosis

Narrowing of a tear duct (lacrimal duct).

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.

Synonyms:Cancer of early nerve cells

Frequency
Uncommon
Occasional
Occasional
Always
Oral-pharyngeal dysphagia

Synonyms:Oral pharyngeal dysphagia; Oropharyngeal dysphagia

Frequency
Uncommon
Frequent
Frequent
Always
Patellar subluxation

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

Frequency
Uncommon
Frequent
Frequent
Always
Pointed chin

A marked tapering of the lower face to the chin.

Synonyms:Pointed chin; Pointed mention region; Pointy chin; Small pointed chin; Witch's chin

Frequency
Uncommon
Frequent
Frequent
Always
Posteriorly rotated ears

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).

Synonyms:Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears

Frequency
Uncommon
Frequent
Frequent
Always
Ptosis

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:Blepharoptosis; Drooping upper eyelid; Eyelid ptosis

Frequency
Uncommon
Occasional
Occasional
Always
Recurrent infections

Increased susceptibility to infections.

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.

Synonyms:Pelviureteric junction obstruction; Ureteropelvic junction stenosis

Frequency
Uncommon
Occasional
Occasional
Always
Ventriculomegaly

An increase in size of the ventricular system of the brain.

Synonyms:Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation

Frequency
Uncommon
Occasional
Occasional
Always
Waddling gait

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.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

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.
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.



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.




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.

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.

 

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.

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

Patient Organizations

5 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Gabriele de Vries syndrome

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participate in Research

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?

  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 U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

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 U.S. Food & Drug Administration webpage.
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 U.S. Food & Drug Administration 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 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

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

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.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
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.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.

Last Updated: December 2024