Mulibrey nanism: Difference between revisions
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'''Mulibrey nanism''' is a rare, autosomal recessive disorder characterized by growth failure of [[muscle]], [[liver]], [[brain]], and [[eye]]; hence the acronym MULIBREY (MUscle-LIver-BRain-EYe). The disorder was first described in 1973 by Finnish pediatrician Jukka | {{SI}} | ||
{{Infobox medical condition | |||
| name = Mulibrey nanism | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Mulibrey nanism is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Muscle-liver-brain-eye nanism | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Growth retardation]], [[muscle weakness]], [[liver dysfunction]], [[brain abnormalities]], [[eye abnormalities]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[TRIM37]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Russell-Silver syndrome]], [[Seckel syndrome]] | |||
| prevention = | |||
| treatment = [[Symptomatic treatment]], [[hormone therapy]] | |||
| medication = | |||
| prognosis = Variable, depends on severity of symptoms | |||
| frequency = Rare, more common in [[Finland]] | |||
}} | |||
[[File:Human male karyotpe high resolution - Chromosome 17 cropped.png|Mulibrey nanism|thumb|left]] | |||
[[File:Somatotropine.GIF|Mulibrey nanism|thumb|left]] | |||
'''Mulibrey nanism''' is a rare, autosomal recessive disorder characterized by growth failure of [[muscle]], [[liver]], [[brain]], and [[eye]]; hence the acronym MULIBREY (MUscle-LIver-BRain-EYe). The disorder was first described in 1973 by Finnish pediatrician Jukka Kallijärvi. It is also known as ''Perheentupa syndrome'' after the Finnish pediatrician Jaakko Perheentupa who further characterized the disorder. | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The most common symptoms of Mulibrey nanism include severe growth failure and distinctive facial features. These features may include a triangular face, a pointed chin, a large nose, and eyes that appear to be spaced widely apart. Other symptoms may include heart abnormalities, liver abnormalities, muscle weakness, and a variety of other symptoms. | The most common symptoms of Mulibrey nanism include severe growth failure and distinctive facial features. These features may include a triangular face, a pointed chin, a large nose, and eyes that appear to be spaced widely apart. Other symptoms may include heart abnormalities, liver abnormalities, muscle weakness, and a variety of other symptoms. | ||
== Causes == | == Causes == | ||
Mulibrey nanism is caused by mutations in the [[TRIM37]] gene. This gene provides instructions for making a protein that is involved in the normal functioning of the cell's machinery for protein degradation. Mutations in the TRIM37 gene disrupt the normal functioning of this machinery, leading to the accumulation of abnormal proteins and the symptoms of Mulibrey nanism. | Mulibrey nanism is caused by mutations in the [[TRIM37]] gene. This gene provides instructions for making a protein that is involved in the normal functioning of the cell's machinery for protein degradation. Mutations in the TRIM37 gene disrupt the normal functioning of this machinery, leading to the accumulation of abnormal proteins and the symptoms of Mulibrey nanism. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Mulibrey nanism is based on the presence of characteristic clinical features and confirmed by genetic testing. The genetic test involves sequencing the TRIM37 gene to identify mutations. | The diagnosis of Mulibrey nanism is based on the presence of characteristic clinical features and confirmed by genetic testing. The genetic test involves sequencing the TRIM37 gene to identify mutations. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Mulibrey nanism. Treatment is symptomatic and supportive, and may include growth hormone therapy to improve growth, and surgery to correct heart abnormalities. | There is currently no cure for Mulibrey nanism. Treatment is symptomatic and supportive, and may include growth hormone therapy to improve growth, and surgery to correct heart abnormalities. | ||
== Epidemiology == | == Epidemiology == | ||
Mulibrey nanism is extremely rare, with fewer than 200 cases reported worldwide. The majority of these cases have been reported in Finland, where the disorder is estimated to affect 1 in 50,000 individuals. | Mulibrey nanism is extremely rare, with fewer than 200 cases reported worldwide. The majority of these cases have been reported in Finland, where the disorder is estimated to affect 1 in 50,000 individuals. | ||
== See also == | == See also == | ||
* [[TRIM37]] | * [[TRIM37]] | ||
* [[Growth hormone]] | * [[Growth hormone]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 21:24, 9 April 2025
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Obesity, Sleep & Internal medicine
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| Mulibrey nanism | |
|---|---|
| |
| Synonyms | Muscle-liver-brain-eye nanism |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Growth retardation, muscle weakness, liver dysfunction, brain abnormalities, eye abnormalities |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the TRIM37 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Russell-Silver syndrome, Seckel syndrome |
| Prevention | |
| Treatment | Symptomatic treatment, hormone therapy |
| Medication | |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare, more common in Finland |
| Deaths | N/A |
Mulibrey nanism is a rare, autosomal recessive disorder characterized by growth failure of muscle, liver, brain, and eye; hence the acronym MULIBREY (MUscle-LIver-BRain-EYe). The disorder was first described in 1973 by Finnish pediatrician Jukka Kallijärvi. It is also known as Perheentupa syndrome after the Finnish pediatrician Jaakko Perheentupa who further characterized the disorder.
Signs and Symptoms[edit]
The most common symptoms of Mulibrey nanism include severe growth failure and distinctive facial features. These features may include a triangular face, a pointed chin, a large nose, and eyes that appear to be spaced widely apart. Other symptoms may include heart abnormalities, liver abnormalities, muscle weakness, and a variety of other symptoms.
Causes[edit]
Mulibrey nanism is caused by mutations in the TRIM37 gene. This gene provides instructions for making a protein that is involved in the normal functioning of the cell's machinery for protein degradation. Mutations in the TRIM37 gene disrupt the normal functioning of this machinery, leading to the accumulation of abnormal proteins and the symptoms of Mulibrey nanism.
Diagnosis[edit]
The diagnosis of Mulibrey nanism is based on the presence of characteristic clinical features and confirmed by genetic testing. The genetic test involves sequencing the TRIM37 gene to identify mutations.
Treatment[edit]
There is currently no cure for Mulibrey nanism. Treatment is symptomatic and supportive, and may include growth hormone therapy to improve growth, and surgery to correct heart abnormalities.
Epidemiology[edit]
Mulibrey nanism is extremely rare, with fewer than 200 cases reported worldwide. The majority of these cases have been reported in Finland, where the disorder is estimated to affect 1 in 50,000 individuals.
See also[edit]
References[edit]
<references />
