Lenz–Majewski syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Lenz–Majewski syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Lenz–Majewski syndrome is inherited in an [[autosomal dominant]] manner | |||
| synonyms = LMS | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[craniofacial dysmorphism]], [[skeletal abnormalities]], [[hyperostosis]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[PTDSS1]] gene | |||
| risks = | |||
| diagnosis = [[Clinical evaluation]], [[genetic testing]] | |||
| differential = [[Other genetic syndromes]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| medication = | |||
| prognosis = Variable | |||
| frequency = Extremely rare | |||
}} | |||
'''Lenz–Majewski syndrome''' is a [[rare]] [[genetic disorder]] characterized by [[intellectual disability]], [[short stature]], [[skeletal abnormalities]], and [[loose skin]]. It is named after the scientists [[Wolfgang Lenz]] and [[Peter Majewski]] who first described the condition. | '''Lenz–Majewski syndrome''' is a [[rare]] [[genetic disorder]] characterized by [[intellectual disability]], [[short stature]], [[skeletal abnormalities]], and [[loose skin]]. It is named after the scientists [[Wolfgang Lenz]] and [[Peter Majewski]] who first described the condition. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of Lenz–Majewski syndrome include [[intellectual disability]], [[short stature]], [[skeletal abnormalities]], and [[loose skin]]. Other symptoms may include [[hearing loss]], [[vision problems]], and [[dental abnormalities]]. The severity of the symptoms can vary greatly from person to person. | The symptoms of Lenz–Majewski syndrome include [[intellectual disability]], [[short stature]], [[skeletal abnormalities]], and [[loose skin]]. Other symptoms may include [[hearing loss]], [[vision problems]], and [[dental abnormalities]]. The severity of the symptoms can vary greatly from person to person. | ||
== Causes == | == Causes == | ||
Lenz–Majewski syndrome is caused by mutations in the [[PTDSS1 gene]]. This gene provides instructions for making a protein that is involved in the production of [[phosphatidylserine]], a type of fat that is a key component of cell membranes. | Lenz–Majewski syndrome is caused by mutations in the [[PTDSS1 gene]]. This gene provides instructions for making a protein that is involved in the production of [[phosphatidylserine]], a type of fat that is a key component of cell membranes. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Lenz–Majewski syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis. | The diagnosis of Lenz–Majewski syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Lenz–Majewski syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the condition. This may include physical therapy, occupational therapy, and special education services. | There is currently no cure for Lenz–Majewski syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the condition. This may include physical therapy, occupational therapy, and special education services. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Lenz–Majewski syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the condition. | The prognosis for individuals with Lenz–Majewski syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the condition. | ||
== See Also == | == See Also == | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
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* [[Skeletal abnormalities]] | * [[Skeletal abnormalities]] | ||
* [[Loose skin]] | * [[Loose skin]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
| Line 30: | Line 44: | ||
[[Category:Skeletal abnormalities]] | [[Category:Skeletal abnormalities]] | ||
[[Category:Loose skin]] | [[Category:Loose skin]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 03:29, 6 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
| Lenz–Majewski syndrome | |
|---|---|
| |
| Synonyms | LMS |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, craniofacial dysmorphism, skeletal abnormalities, hyperostosis |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PTDSS1 gene |
| Risks | |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Other genetic syndromes |
| Prevention | |
| Treatment | Supportive care, symptomatic treatment |
| Medication | |
| Prognosis | Variable |
| Frequency | Extremely rare |
| Deaths | N/A |
Lenz–Majewski syndrome is a rare genetic disorder characterized by intellectual disability, short stature, skeletal abnormalities, and loose skin. It is named after the scientists Wolfgang Lenz and Peter Majewski who first described the condition.
Symptoms and Signs[edit]
The symptoms of Lenz–Majewski syndrome include intellectual disability, short stature, skeletal abnormalities, and loose skin. Other symptoms may include hearing loss, vision problems, and dental abnormalities. The severity of the symptoms can vary greatly from person to person.
Causes[edit]
Lenz–Majewski syndrome is caused by mutations in the PTDSS1 gene. This gene provides instructions for making a protein that is involved in the production of phosphatidylserine, a type of fat that is a key component of cell membranes.
Diagnosis[edit]
The diagnosis of Lenz–Majewski syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for Lenz–Majewski syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the condition. This may include physical therapy, occupational therapy, and special education services.
Prognosis[edit]
The prognosis for individuals with Lenz–Majewski syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the condition.
