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Disease Profile
Koolen de Vries syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
17q21.31 deletion syndrome; Monosomy 17q21.31; Microdeletion 17q21.31 syndrome;
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
Koolen de Vries
Symptoms
- Distinctive facial features (including a high, broad forehead; droopy eyelids (
ptosis ); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears) Developmental delay /intellectual disability - Low muscle tone (
hypotonia ) in childhood - Friendly and cheerful attitude
In about 50% to 75% of the cases the following symptoms may be present:[2]
Epilepsy - Skin and hair problems
- Nasal speech
- Narrow/high palate
- Dental anomalies
- Slender/long fingers
- Joints that are too flexible (hypermobility) and/or joint dislocation or deformation
- Brain anomalies
- Kidney and genital anomalies
Less frequent symptoms (25%-50%) are:[2]
- Far-sightedness (hypermetropia)
Crossed eyes (strabismus)- Narrow hands
- Small hands
- Heart defects
- Hip dislocation/dysplasia
- Persistence of fingertip pads
- Slender lower limbs
- Positional deformity of the feet
- Abnormal curvature of the spine (
scoliosis /kyphosis)
In some cases (10% to 25% of the cases) the following symptoms may be present:[2]
Hearing loss due to chronic infection of the ears (otitis media)- Low birth weight
Short stature - Abnormal head shape
- Sunken chest (pectus excavatum)
Uncommon symptoms (in less than 10% of the cases) include:[2]
- Cleft lip/palate
- Very small head (
microcephaly ) - Clouding of the lens in the eye (
cataract ) - Narrowing of the muscular opening at the lower end of the stomach that connects to the intestines (pyloric stenosis)
- Vertebras that are joined together (fused vertebrae)
- A condition in which a bone (vertebra) in the spine moves forward out of the proper position onto the bone below it (spondylolisthesis)
- Hypothyroidism
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 | |
Bulbous nose | 0000414 | ||
Coarse facial features |
Coarse facial appearance
|
0000280 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 | |
Global developmental delay | 0001263 | ||
High forehead | 0000348 | ||
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 | |
Overfolded helix |
Overfolded ears
|
0000396 | |
Overfriendliness | 0100025 | ||
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 | |
Ptosis |
Drooping upper eyelid
|
0000508 | |
Thick nasal alae | 0009928 | ||
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 | |
30%-79% of people have these symptoms | |||
Abnormal cardiac septum morphology | 0001671 | ||
Abnormality of hair texture | 0010719 | ||
Aplasia/Hypoplasia of the |
0007370 | ||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
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
[ more ] |
0000750 | |
Feeding difficulties in infancy | 0008872 | ||
High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ] |
0008499 | |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 | |
Hip dysplasia | 0001385 | ||
Hypopigmentation of hair |
Loss of hair color
|
0005599 | |
Hypospadias | 0000047 | ||
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 | |
Microdontia |
Decreased width of tooth
|
0000691 | |
Nasal speech |
Nasal voice
|
0001611 | |
Poor speech | 0002465 | ||
Positional foot deformity | 0005656 | ||
Prominent fingertip pads |
Prominent finger pads
|
0001212 | |
0001250 | |||
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Ventriculomegaly | 0002119 | ||
5%-29% of people have these symptoms | |||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 | |
Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 | |
Cataract |
Cloudy lens
Clouding of the lens of the eye
[ Most of the cases are due to the microdeletion. The microdeletion occurs on the long (q) arm of chromosome 17 at a location q21.31. While the exact size of the deletion varies among individuals, most are missing several genes. However, because people with KANSL1 gene mutations have the same signs and symptoms as those with the microdeletion, researchers have concluded that the loss of this gene accounts for the features of this disorder.[1] The KANSL1 gene provides instructions for making a To establish the diagnosis of the Affected people should have routine examinations by a primary care physician and Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Rare Oncology News |