Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
Synonym |
---|
Nanism, Mulibrey |
Muscle-Liver-Brain-Eye Nanism |
Mulibrey Nanism |
Mulibrey Nanism Syndrome |
Perheentupa Syndrome |
Excerpt | Reference |
---|---|
"Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such as cardiac disease (pericardial constriction, myocardial hypertrophy and fibrosis) and anomalies of muscle, liver, brain and eye, resulting in the acronym 'mulibrey'." | ( Hes, FJ; Morreau, H, 2009) |
Timeframe | Studies, This Condition (%) | All Conditions % |
---|---|---|
pre-1990 | 0 (0.00) | 23.3326 |
1990's | 0 (0.00) | 12.5806 |
2000's | 2 (50.00) | 18.1394 |
2010's | 2 (50.00) | 28.8240 |
2020's | 0 (0.00) | 9.53 |
Drug | Indicated | Relationship Strength | Studies | Trials |
---|---|---|---|---|
milrinone | 0 | low | 1 | 0 |
atrial natriuretic factor | 0 | low | 1 | 0 |
natriuretic peptide, brain | 0 | low | 1 | 0 |
eye | 0 | low | 1 | 0 |