Mulibrey nanism
Mulibrey Nanism
Mulibrey nanism (pronounced: muh-lib-rey nay-nizm), also known as Muscle-liver-brain-eye nanism or Perheentupa syndrome, is a rare autosomal recessive congenital disorder characterized by severe growth retardation that affects multiple organs. The term "Mulibrey" is an acronym derived from the first letters of the primary organs affected: MUscle, LIver, BRain, and EYe. The term "nanism" is derived from the Greek word "nanos", meaning dwarf.
Symptoms
The symptoms of Mulibrey nanism include growth retardation, muscular hypotonia, hepatomegaly (enlarged liver), cardiac abnormalities, and distinctive facial features such as a triangular face, low forehead, and slightly slanted eyes.
Causes
Mulibrey nanism is caused by mutations in the TRIM37 gene. This gene provides instructions for making a protein that is involved in the regulation of cell growth and division. Mutations in the TRIM37 gene disrupt the normal function of this protein, leading to the characteristic features of Mulibrey nanism.
Diagnosis
Diagnosis of Mulibrey nanism is based on clinical features, genetic testing, and imaging studies such as ultrasound and magnetic resonance imaging (MRI).
Treatment
There is currently no cure for Mulibrey nanism. Treatment is symptomatic and supportive, and may include growth hormone therapy, cardiac surgery, and regular monitoring of growth and development.
Prognosis
The prognosis for individuals with Mulibrey nanism varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may have a shortened lifespan due to complications such as congestive heart failure.
See also
External links
- Medical encyclopedia article on Mulibrey nanism
- Wikipedia's article - Mulibrey nanism
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