Koolen–De Vries syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Koolen–De Vries syndrome | |||
| image = [[File:Human_male_karyotpe_high_resolution_-_Chromosome_17_cropped.png|alt=Chromosome 17]] | |||
| caption = Chromosome 17, where the [[17q21.31 microdeletion syndrome|17q21.31 microdeletion]] occurs | |||
| synonyms = 17q21.31 microdeletion syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[hypotonia]], [[distinctive facial features]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]] | |||
| differential = [[Other genetic syndromes]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[therapies]] | |||
| medication = | |||
| prognosis = Variable | |||
| frequency = Rare | |||
}} | |||
'''Koolen–De Vries syndrome''' (KdVS), also known as '''17q21.31 microdeletion syndrome''', is a rare genetic disorder characterized by a variety of physical, neurological, and behavioral symptoms. The syndrome was first described by Dutch researchers [[David Koolen]] and [[Bert De Vries]] in 2006. | '''Koolen–De Vries syndrome''' (KdVS), also known as '''17q21.31 microdeletion syndrome''', is a rare genetic disorder characterized by a variety of physical, neurological, and behavioral symptoms. The syndrome was first described by Dutch researchers [[David Koolen]] and [[Bert De Vries]] in 2006. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of Koolen–De Vries syndrome can vary widely among affected individuals. Common symptoms include developmental delay, intellectual disability, and distinctive facial features. Other symptoms can include heart defects, seizures, and various other physical abnormalities. | The symptoms of Koolen–De Vries syndrome can vary widely among affected individuals. Common symptoms include developmental delay, intellectual disability, and distinctive facial features. Other symptoms can include heart defects, seizures, and various other physical abnormalities. | ||
=== Developmental Delay and Intellectual Disability === | === Developmental Delay and Intellectual Disability === | ||
Most individuals with Koolen–De Vries syndrome experience some degree of developmental delay and intellectual disability. This can range from mild to severe, and can affect various aspects of development, including motor skills, speech and language development, and social and adaptive skills. | Most individuals with Koolen–De Vries syndrome experience some degree of developmental delay and intellectual disability. This can range from mild to severe, and can affect various aspects of development, including motor skills, speech and language development, and social and adaptive skills. | ||
=== Distinctive Facial Features === | === Distinctive Facial Features === | ||
Individuals with Koolen–De Vries syndrome often have distinctive facial features. These can include a high forehead, long face, upslanting palpebral fissures (the opening between the eyelids), and a tubular or pear-shaped nose. | Individuals with Koolen–De Vries syndrome often have distinctive facial features. These can include a high forehead, long face, upslanting palpebral fissures (the opening between the eyelids), and a tubular or pear-shaped nose. | ||
=== Other Symptoms === | === Other Symptoms === | ||
Other symptoms of Koolen–De Vries syndrome can include heart defects, seizures, and various other physical abnormalities. These can include skeletal abnormalities, kidney abnormalities, and abnormalities of the genitals. | Other symptoms of Koolen–De Vries syndrome can include heart defects, seizures, and various other physical abnormalities. These can include skeletal abnormalities, kidney abnormalities, and abnormalities of the genitals. | ||
== Causes == | == Causes == | ||
Koolen–De Vries syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 17 at a location designated q21.31. This deletion occurs as a new (de novo) mutation, which means it is generally not inherited from the parents. | Koolen–De Vries syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 17 at a location designated q21.31. This deletion occurs as a new (de novo) mutation, which means it is generally not inherited from the parents. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Koolen–De Vries syndrome is based on clinical features and confirmed by genetic testing. This testing can identify the characteristic deletion of genetic material from chromosome 17. | Diagnosis of Koolen–De Vries syndrome is based on clinical features and confirmed by genetic testing. This testing can identify the characteristic deletion of genetic material from chromosome 17. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Koolen–De Vries syndrome. Treatment is symptomatic and supportive, and can include physical therapy, speech therapy, and educational support. Medications may be used to manage seizures and other symptoms. | There is currently no cure for Koolen–De Vries syndrome. Treatment is symptomatic and supportive, and can include physical therapy, speech therapy, and educational support. Medications may be used to manage seizures and other symptoms. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Chromosome 17]] | * [[Chromosome 17]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 03:39, 6 April 2025
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| Koolen–De Vries syndrome | |
|---|---|
| |
| Synonyms | 17q21.31 microdeletion syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, hypotonia, distinctive facial features |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing |
| Differential diagnosis | Other genetic syndromes |
| Prevention | |
| Treatment | Supportive care, therapies |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by a variety of physical, neurological, and behavioral symptoms. The syndrome was first described by Dutch researchers David Koolen and Bert De Vries in 2006.
Symptoms and Signs[edit]
The symptoms of Koolen–De Vries syndrome can vary widely among affected individuals. Common symptoms include developmental delay, intellectual disability, and distinctive facial features. Other symptoms can include heart defects, seizures, and various other physical abnormalities.
Developmental Delay and Intellectual Disability[edit]
Most individuals with Koolen–De Vries syndrome experience some degree of developmental delay and intellectual disability. This can range from mild to severe, and can affect various aspects of development, including motor skills, speech and language development, and social and adaptive skills.
Distinctive Facial Features[edit]
Individuals with Koolen–De Vries syndrome often have distinctive facial features. These can include a high forehead, long face, upslanting palpebral fissures (the opening between the eyelids), and a tubular or pear-shaped nose.
Other Symptoms[edit]
Other symptoms of Koolen–De Vries syndrome can include heart defects, seizures, and various other physical abnormalities. These can include skeletal abnormalities, kidney abnormalities, and abnormalities of the genitals.
Causes[edit]
Koolen–De Vries syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 17 at a location designated q21.31. This deletion occurs as a new (de novo) mutation, which means it is generally not inherited from the parents.
Diagnosis[edit]
Diagnosis of Koolen–De Vries syndrome is based on clinical features and confirmed by genetic testing. This testing can identify the characteristic deletion of genetic material from chromosome 17.
Treatment[edit]
There is currently no cure for Koolen–De Vries syndrome. Treatment is symptomatic and supportive, and can include physical therapy, speech therapy, and educational support. Medications may be used to manage seizures and other symptoms.
See Also[edit]
NIH genetic and rare disease info[edit]
Koolen–De Vries syndrome is a rare disease.
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Rare diseases - Koolen–De Vries syndrome
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| Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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This syndrome related article is a stub.
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