Mulibrey nanism

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

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

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

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

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

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

• TRIM37
• Growth hormone
• Genetic testing

References

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