Lenz–Majewski syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| 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 | edit source]
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 | edit source]
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 | edit source]
The diagnosis of Lenz–Majewski syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
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 | edit source]
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[edit | edit source]
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Contributors: Prab R. Tumpati, MD
