Which are the symptoms of Mulibrey Nanism?

Mulibrey Nanism is a rare genetic disorder that primarily affects growth and development. It is characterized by a combination of distinct symptoms that can vary in severity from person to person. The term "Mulibrey" stands for muscle-liver-brain-eye, which are the main areas of the body affected by this condition.

Short stature is one of the hallmark features of Mulibrey Nanism. Individuals with this disorder typically have significantly reduced height compared to their peers. The growth retardation usually becomes apparent during early childhood and persists throughout life.

Facial characteristics associated with Mulibrey Nanism include a triangular face with a prominent forehead, a small chin, and a narrow nose. The facial features may appear doll-like or cherubic in some cases.

Cardiac abnormalities are common in individuals with Mulibrey Nanism. The most prevalent cardiac manifestation is constrictive pericarditis, which is the inflammation and scarring of the pericardium (the sac surrounding the heart). This can lead to impaired heart function and potentially life-threatening complications.

Liver involvement is another significant aspect of Mulibrey Nanism. The liver may be enlarged (hepatomegaly) and show signs of fibrosis. This can result in liver dysfunction and an increased risk of developing liver tumors.

Brain abnormalities are observed in some individuals with Mulibrey Nanism. These can include intellectual disability, learning difficulties, and delayed speech and language development. However, the cognitive impairment can vary widely among affected individuals.

Eye findings associated with Mulibrey Nanism include a condition called myopia (nearsightedness), which causes difficulty seeing distant objects clearly. Additionally, individuals may have small optic discs, which are the part of the eye where the optic nerve enters.

Other features that may be present in Mulibrey Nanism include thin bones (osteoporosis), joint stiffness, abnormalities of the reproductive system, and increased susceptibility to infections.

It is important to note that the severity and combination of symptoms can vary widely among individuals with Mulibrey Nanism. Some individuals may only exhibit a subset of the characteristic features, while others may experience more severe complications affecting multiple organ systems.

Due to the rarity of Mulibrey Nanism, early diagnosis can be challenging. Genetic testing is typically required to confirm the presence of mutations in the TRIM37 gene, which is responsible for this disorder. Management of Mulibrey Nanism involves addressing the specific symptoms and complications present in each individual, often requiring a multidisciplinary approach involving various medical specialists.