Mulibrey nanism
| Mulibrey nanism | |
|---|---|
| Other names | Perheentupa syndrome and Pericardial constriction with growth failure |
| Mulibrey nanism has an autosomal recessive pattern of inheritance. | |
| Specialty | Rheumatology, medical genetics |
| Symptoms | Infertility |
| Causes | Mutation of the TRIM37 gene |
| Diagnostic method | Genetic testing |
| Treatment | Growth hormone treatment, Regular pelvic exams |
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism") is a rare autosomal recessive congenital disorder. It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye. TRIM37 is responsible for various cellular functions including developmental patterning.