Kosaki overgrowth syndrome: Difference between revisions
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[[File:Autosomal_dominant_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Kosaki overgrowth syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Kosaki overgrowth syndrome is inherited in an [[autosomal dominant]] manner | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Overgrowth]], [[developmental delay]], [[intellectual disability]], [[macrocephaly]], [[facial dysmorphism]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[PDGFRB]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = Other [[overgrowth syndromes]] | |||
| prevention = | |||
| treatment = [[Symptomatic treatment]], [[supportive care]] | |||
| medication = | |||
| prognosis = Variable | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Kosaki overgrowth syndrome''' is a rare [[genetic disorder]] characterized by [[overgrowth]], distinctive facial features, and various other abnormalities. It is named after Dr. Kenji Kosaki, who first described the syndrome. | |||
==Presentation== | ==Presentation== | ||
Individuals with Kosaki overgrowth syndrome typically exhibit [[macrosomia]] (excessive birth weight and length), [[macrocephaly]] (abnormally large head), and distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. Other common features include [[developmental delay]], [[intellectual disability]], and [[congenital heart defects]]. | Individuals with Kosaki overgrowth syndrome typically exhibit [[macrosomia]] (excessive birth weight and length), [[macrocephaly]] (abnormally large head), and distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. Other common features include [[developmental delay]], [[intellectual disability]], and [[congenital heart defects]]. | ||
==Genetics== | ==Genetics== | ||
Kosaki overgrowth syndrome is caused by mutations in the [[PIK3CA]] gene. This gene plays a crucial role in cell growth, proliferation, and survival. Mutations in PIK3CA lead to abnormal cell growth and the various manifestations of the syndrome. | Kosaki overgrowth syndrome is caused by mutations in the [[PIK3CA]] gene. This gene plays a crucial role in cell growth, proliferation, and survival. Mutations in PIK3CA lead to abnormal cell growth and the various manifestations of the syndrome. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Kosaki overgrowth syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the PIK3CA gene. [[Prenatal diagnosis]] may be possible if a mutation is identified in a family member. | Diagnosis of Kosaki overgrowth syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the PIK3CA gene. [[Prenatal diagnosis]] may be possible if a mutation is identified in a family member. | ||
==Management== | ==Management== | ||
There is no cure for Kosaki overgrowth syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including [[pediatricians]], [[geneticists]], [[cardiologists]], and [[developmental specialists]]. Early intervention programs and special education services can help address developmental delays and intellectual disabilities. | There is no cure for Kosaki overgrowth syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including [[pediatricians]], [[geneticists]], [[cardiologists]], and [[developmental specialists]]. Early intervention programs and special education services can help address developmental delays and intellectual disabilities. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Kosaki overgrowth syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and intervention can improve the quality of life for affected individuals. | The prognosis for individuals with Kosaki overgrowth syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and intervention can improve the quality of life for affected individuals. | ||
==See also== | ==See also== | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Congenital heart defect]] | * [[Congenital heart defect]] | ||
==See also== | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Overgrowth syndrome]] | * [[Overgrowth syndrome]] | ||
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* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Congenital heart defect]] | * [[Congenital heart defect]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 00:50, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Kosaki overgrowth syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Overgrowth, developmental delay, intellectual disability, macrocephaly, facial dysmorphism |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PDGFRB gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other overgrowth syndromes |
| Prevention | |
| Treatment | Symptomatic treatment, supportive care |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
Kosaki overgrowth syndrome is a rare genetic disorder characterized by overgrowth, distinctive facial features, and various other abnormalities. It is named after Dr. Kenji Kosaki, who first described the syndrome.
Presentation[edit]
Individuals with Kosaki overgrowth syndrome typically exhibit macrosomia (excessive birth weight and length), macrocephaly (abnormally large head), and distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. Other common features include developmental delay, intellectual disability, and congenital heart defects.
Genetics[edit]
Kosaki overgrowth syndrome is caused by mutations in the PIK3CA gene. This gene plays a crucial role in cell growth, proliferation, and survival. Mutations in PIK3CA lead to abnormal cell growth and the various manifestations of the syndrome.
Diagnosis[edit]
Diagnosis of Kosaki overgrowth syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the PIK3CA gene. Prenatal diagnosis may be possible if a mutation is identified in a family member.
Management[edit]
There is no cure for Kosaki overgrowth syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including pediatricians, geneticists, cardiologists, and developmental specialists. Early intervention programs and special education services can help address developmental delays and intellectual disabilities.
Prognosis[edit]
The prognosis for individuals with Kosaki overgrowth syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and intervention can improve the quality of life for affected individuals.
See also[edit]
- Genetic disorder
- Overgrowth syndrome
- PIK3CA
- Developmental delay
- Intellectual disability
- Congenital heart defect
See also[edit]
- Genetic disorder
- Overgrowth syndrome
- PIK3CA
- Developmental delay
- Intellectual disability
- Congenital heart defect
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