Mulibrey nanism syndrome
Mulibrey nanism syndrome Causes
The disease is caused by mutations in the TRIM37 gene on chromosome 17q22-q23.
Mulibrey nanism syndrome Definition
Mulibrey nanism is a genetic disease and is an extremely rare autosomal recessive genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The disorder can lead to dwarfism, which is another term for nanism. Mulibrey is an acronym that stands for (Mu)scle, (Li)ver, (Br)ain, and (Ey)e.
Mulibrey nanism syndrome Diagnosis
Studies conducted state that clinical diagnosis of the disease during the first few months of life is a challenge. This is because among infants, intrauterine growth failure is a heterogenous group and the facial features are not unique to the group.
Mulibrey nanism syndrome Symptoms and Signs
The disorder has characteristic symptoms that may include low birth weight, short stature, and severe progressive growth delays. An abnormally large liver and yellow discoloration of the eyes can also be seen among affected infants.