Definition
Mulibrey (muscle, liver, brain, and eye) nanism (MUL; OMIM #253250) is a rare autosomal-recessive growth disorder that already starts prenatally and is associated with a severe growth disorder, a striking facial appearance, constrictive pericarditis, hepatomegaly, male infertility, insulin resistance, and metabolic changes. There is an increased risk of developing Wilms and other tumors.
Key Data
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| Synonym | Pericardial constriction and growth disorder; Perheentupa syndrome |
| Gene | TRIM37 |
| Gene product | TRIM37 |
| Function | TRIM37 is an H2A ubiquitin ligase that regulates tumor suppressor genes and other genes. |
| Heredity | Autosomal recessive |
| Prevalence | Extremely rare; somewhat more common in a few regions such as Finland |
| Genotype-phenotype correlation | Unknown |
| Penetrance | Unknown |
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Diagnosis
Diagnosis
The diagnosis is made clinically and confirmed with gene analysis by identification of a biallelic mutation in TRIM37.
Differential Diagnoses
Clinical Presentation
Clinical Presentation
Dwarfism is usually already apparent prenatally and continues postnatally through restricted growth. Bone changes may occur during early childhood, such as skinny, long bones with a thick cortex and a narrow medullary canal, fibrous dysplasia of the long bones, a J-shaped sella turcica, and scaphocephaly. The face of children with Mulibrey nanism is often triangular in shape, with a high and broad forehead and a flat nasal bridge, and there may be yellowish spots in the middle peripheral area of the retina and a high-pitched voice. Other abnormalities during early childhood may include hepatomegaly, cutaneous naevi flammei, pericardial constriction, feeding problems, pneumonia, and recurring respiratory infections.
Benign and malignant tumors: Cysts in various organs, peliosis of the liver, adrenal adenomas, parathyroid adenomas, thyroid nodules, cystic adenomas, renal angiomyolipoma, ovarian fibrothecoma, pheochromocytoma, and Langerhans cell histiocytosis of the CNS. Nephroblastomas, papillary renal cell carcinomas, papillary and medullary thyroid carcinomas, ovarian carcinomas, endometrial carcinoma, and acute lymphoblastic leukemia.
Therapeutic Considerations
Due to the complex clinical presentation, therapy should be undertaken by a multidisciplinary team.
Surveillance Recommendations
Surveillance Recommendations
Additional Information
Open Clinical Trials / Registries
There are currently no open clinical trials/registries for patients with Mulibrey nanism that we can recommend to you for more information.
