Search for a rare disease
Other search option(s)
MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.
- MULIBREY dwarfism
- Muscle-liver-brain-eye nanism
- Perheentupa syndrome
- Pericardial constriction-growth failure syndrome
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.1
- OMIM: 253250
- UMLS: C0524582 C2931895
- MeSH: C538604 D050336
- GARD: 95
- MedDRA: -
The exact prevalence is unknown, though 115 cases have been reported so far.
MUL is characterized by pre- and postnatal growth restriction and diagnosis should be considered in infants born small for gestational age with progressive growth failure and poor weight gain. Other major diagnostic signs are characteristic slender long bones with thick cortex and narrow medullar channels or J-shaped sella turcica in X-rays, characteristic craniofacial features with scaphocephaly, triangular face, high and broad forehead, low nasal bridge and yellowish dots in retinal mid peripheral region. Minor diagnostic signs include peculiar high-pitched voice, hepatomegaly, cutaneous naevi flammei and fibrous dysplasia of long bones. For the diagnosis three major signs or two major signs with three minor signs are needed. The psychomotor development is mainly normal. A restrictive perimyocardial heart disease is the most serious element of the disease. Feeding difficulties, pneumonias and recurrent respiratory infections are common problems during infancy. The risk of Wilm's tumor is increased and females are at very high risk of developing ovarian fibrothecomas. Females present premature ovarian failure and are infertile. In addition most patients develop severe insulin resistance and metabolic syndrome already at young age.
It is caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. Ninety-six Finnish and 15 non-Finnish patients have a molecularly confirmed diagnosis. In Finland, one major founder mutation is seen in all patients and four patients are compound heterozygotes for the Finnish major mutation and one of the three minor mutations. Private mutations account for the non Finnish cases. Molecular genetic screening for mutations on TRIM37 gene is available in Finland.
Sequencing of the whole TRIM37 gene is necessary for non Finnish patients.
Differential diagnosis includes dysmorphic growth disorders with prenatal onset growth failure, namely Silver-Russell syndrome and 3M-syndrome.
Prenatal molecular genetic testing is possible but rational only in families known to be affected with MULIBREY nanism.
MUL is an autosomal recessive disorder.
Management and treatment
Early recognition and management of feeding, respiratory problems or heart involvement by pericardiectomy are of major importance. Growth hormone treatment induces a good short-term, but only modest long-term, growth effect. From adolescence, the glucose metabolism should be observed and postpubertal females need regular gynaecological follow-up.
- Summary information
- Polski (2007, pdf)