Singleton Merten syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
[[File:Autosomal_dominant_-_en.svg|Autosomal dominant - | {{SI}} | ||
{{Infobox medical condition | |||
| name = Singleton-Merten syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = [[Autosomal dominant]] is the manner of inheritance | |||
| synonyms = Singleton-Merten dysplasia | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Aortic valve calcification]], [[dental dysplasia]], [[osteoporosis]], [[psoriasiform rash]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Rheumatic fever]], [[Marfan syndrome]], [[Ehlers-Danlos syndrome]] | |||
| treatment = [[Symptomatic treatment]], [[dental care]], [[cardiac monitoring]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Singleton Merten syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[dental anomalies]], [[osteoporosis]], and [[calcification]] of the [[aorta]] and [[heart valves]]. The syndrome was first described by Singleton and Merten in 1973. | |||
==Presentation== | ==Presentation== | ||
Individuals with Singleton Merten syndrome typically present with a variety of symptoms, including: | Individuals with Singleton Merten syndrome typically present with a variety of symptoms, including: | ||
* Severe [[periodontitis]] leading to early loss of [[teeth]] | * Severe [[periodontitis]] leading to early loss of [[teeth]] | ||
* [[Osteoporosis]] and [[osteopenia]] | * [[Osteoporosis]] and [[osteopenia]] | ||
| Line 10: | Line 28: | ||
* [[Growth retardation]] | * [[Growth retardation]] | ||
* [[Joint pain]] and [[arthritis]] | * [[Joint pain]] and [[arthritis]] | ||
==Genetics== | ==Genetics== | ||
Singleton Merten syndrome is inherited in an [[autosomal dominant]] manner. Mutations in the [[IFIH1]] gene have been identified as a cause of the syndrome. The IFIH1 gene is involved in the body's immune response to viral infections. | Singleton Merten syndrome is inherited in an [[autosomal dominant]] manner. Mutations in the [[IFIH1]] gene have been identified as a cause of the syndrome. The IFIH1 gene is involved in the body's immune response to viral infections. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Singleton Merten syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as [[X-rays]] and [[echocardiograms]] are used to assess bone density and heart valve calcification. | Diagnosis of Singleton Merten syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as [[X-rays]] and [[echocardiograms]] are used to assess bone density and heart valve calcification. | ||
==Management== | ==Management== | ||
There is no cure for Singleton Merten syndrome, and treatment is primarily supportive. Management may include: | There is no cure for Singleton Merten syndrome, and treatment is primarily supportive. Management may include: | ||
* [[Dental care]] to manage periodontitis | * [[Dental care]] to manage periodontitis | ||
* [[Bisphosphonates]] to treat osteoporosis | * [[Bisphosphonates]] to treat osteoporosis | ||
* Regular monitoring of heart function | * Regular monitoring of heart function | ||
* [[Physical therapy]] to improve muscle strength and joint function | * [[Physical therapy]] to improve muscle strength and joint function | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Singleton Merten syndrome varies depending on the severity of symptoms and the presence of complications such as heart valve calcification. Early diagnosis and management can improve quality of life. | The prognosis for individuals with Singleton Merten syndrome varies depending on the severity of symptoms and the presence of complications such as heart valve calcification. Early diagnosis and management can improve quality of life. | ||
==See also== | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Periodontitis]] | * [[Periodontitis]] | ||
| Line 39: | Line 51: | ||
* [[Physical therapy]] | * [[Physical therapy]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dental conditions]] | [[Category:Dental conditions]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Cardiovascular diseases]] | [[Category:Cardiovascular diseases]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 15:20, 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
| Singleton-Merten syndrome | |
|---|---|
| |
| Synonyms | Singleton-Merten dysplasia |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Aortic valve calcification, dental dysplasia, osteoporosis, psoriasiform rash |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Rheumatic fever, Marfan syndrome, Ehlers-Danlos syndrome |
| Prevention | N/A |
| Treatment | Symptomatic treatment, dental care, cardiac monitoring |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | |
Singleton Merten syndrome is a rare genetic disorder characterized by a combination of dental anomalies, osteoporosis, and calcification of the aorta and heart valves. The syndrome was first described by Singleton and Merten in 1973.
Presentation[edit]
Individuals with Singleton Merten syndrome typically present with a variety of symptoms, including:
- Severe periodontitis leading to early loss of teeth
- Osteoporosis and osteopenia
- Aortic valve and mitral valve calcification
- Muscle weakness
- Growth retardation
- Joint pain and arthritis
Genetics[edit]
Singleton Merten syndrome is inherited in an autosomal dominant manner. Mutations in the IFIH1 gene have been identified as a cause of the syndrome. The IFIH1 gene is involved in the body's immune response to viral infections.
Diagnosis[edit]
Diagnosis of Singleton Merten syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as X-rays and echocardiograms are used to assess bone density and heart valve calcification.
Management[edit]
There is no cure for Singleton Merten syndrome, and treatment is primarily supportive. Management may include:
- Dental care to manage periodontitis
- Bisphosphonates to treat osteoporosis
- Regular monitoring of heart function
- Physical therapy to improve muscle strength and joint function
Prognosis[edit]
The prognosis for individuals with Singleton Merten syndrome varies depending on the severity of symptoms and the presence of complications such as heart valve calcification. Early diagnosis and management can improve quality of life.
See also[edit]
- Genetic disorder
- Periodontitis
- Osteoporosis
- Aortic valve
- Mitral valve
- Autosomal dominant
- Genetic testing
- Bisphosphonates
- Physical therapy
