Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find one of our health articles more useful.
Treatment of almost all medical conditions has been affected by the COVID-19 pandemic. NICE has issued rapid update guidelines in relation to many of these. This guidance is changing frequently. Please visit https://www.nice.org.uk/covid-19 to see if there is temporary guidance issued by NICE in relation to the management of this condition, which may vary from the information given below.
Synonyms: muscle-liver-brain-eye nanism, pericardial constriction and growth failure, Perheentupa syndrome
This is a rare autosomal recessive disorder caused by a mutation in a gene on chromosome 17. The name Mulibrey is an acronym:
- MU scle
- LI ver
- BR ain
- EY es
Nanism is defined as a genetic abnormality which results in short stature.
Feeding difficulties and respiratory tract infections are the most common problems in infancy.
- Growth failure of prenatal origin and congenital short stature
- Hydrocephaloid skull
- Cutaneous naevi flammei (65%)
- Peculiar high pitched voice (96%)
- Normal intelligence
- Face: scaphocephaly, triangular face, high and broad forehead, high palate, small chin and low nasal bridge (over 90% of patients)
- Eyes: widely-spaced, fundi showing yellow dots and dispersed pigment, hypoplasia of the choroid, strabismus, astigmatism
- Abdomen: hepatomegaly (45%)
- Most cases show pericardial constriction due to thickening of the pericardium.
- Myocardial hypertrophy, and variable myocardial fibrosis are also seen.
- At least 50% of patients eventually develop heart failure.
- Fibrous dysplasia of long bones (25%)
Wilms' tumour Cystic dysplasia of bone (usually the tibia)
Further reading and references
Perpheentupa J, Autio S, Leisti S, et al; Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet. 1973 Aug 182(7825):351-5.
Karlberg N, Jalanko H, Perheentupa J, et al; Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet. 2004 Feb41(2):92-8.
Perheentupa J, Autio S, Leisti S, et al; Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. Birth Defects Orig Artic Ser. 197511(2):3-17.
Lipsanen-Nyman M, Perheentupa J, Rapola J, et al; Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985. Circulation. 2003 Jun 10107(22):2810-5. Epub 2003 May 19.