It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye.
[5][6][7] An individual with Mulibrey nanism has growth retardation, a short broad neck, misshapen sternum, small thorax, square shoulders, enlarged liver, and yellowish dots in the ocular fundi.
[1] Mulibrey nanism is caused by mutations of the TRIM37 gene,[2] located at human chromosome 17q22-23.
[medical citation needed] The diagnosis of Mulibrey nanism can be done via genetic testing,[3] as well as by the physical characteristics (signs/symptoms) displayed by the individual.
[10] In terms of treatment/management for those with Mulibrey nanism should have routine medical follow-ups, additionally the following can be done:[4] Worldwide, it has been documented in 110 persons, 85 of them Finnish.