Mulibrey Nanism, also known as Mulibrey Dwarfism, is a rare genetic disorder characterized by multiple symptoms affecting various parts of the body. It is named after the three main features associated with the condition: MUscle, LIver, and BRAin (Mulibrey).
Synonyms for Mulibrey Nanism include:
Mulibrey Nanism is an extremely rare condition with a limited number of reported cases worldwide. It is caused by mutations in the TRIM37 gene, which plays a role in regulating cell growth and division. The disorder primarily affects growth and development, leading to severe short stature, characteristic facial features, and various organ abnormalities.
Individuals with Mulibrey Nanism may also experience cardiac complications, such as pericardial constriction and heart failure, as well as liver abnormalities, including hepatomegaly (enlarged liver) and fibrosis. Additionally, they may exhibit endocrine dysfunctions, such as hypothyroidism and insulin resistance.
Early diagnosis and management of Mulibrey Nanism are crucial to address the associated health issues. Treatment primarily focuses on symptom management and regular monitoring of affected individuals to detect and address potential complications.