Related to this topic: Equipment | Books | Your Experience | Other resources | Glossaries
Print options: Printer friendly version of this leaflet (html)     Other options:  AddThis Social Bookmark Button (what's this?)

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people.

Mulibrey Nanism

Synonyms: Muscle-Liver-Brain-Eye Nanism, Pericardial constriction and growth failure, Perheentupa Syndrome1

This is a rare autosomal recessive disorder caused by a mutation in a gene on chromosome 17.2
The name Mulibrey is an acronym:

  • MU scle
  • LI ver
  • BR ain
  • EY es

Nanism is defined a genetic abnormality which results in short stature.

Features3

Feeding difficulties and respiratory tract infections are the most common problems in infancy.

  • Growth failure of prenatal origin and congenital short stature.4
  • Hydrocephaloid skull.
  • Hypotonia.
  • 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 are present in over 90% of patients.
  • Eyes: Widely spaced, fundi showing yellow dots and dispersed pigment, hypoplasia of the choroid, strabismus, astigmatism.
  • Abdomen: Hepatomegaly (45%).
  • Cardiovascular: 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%).
Associated Diseases

Wilm's Tumour
Cystic dysplasia of bone; usually the tibia

Management
  • Supportive
  • Pericardiectomy; this usually provides clinical benefit, but 33% patients have recurring CHF, because of co-existing myocardial involvement.5
Document References
  1. Perpheentupa J, Autio S, Leisti S, et al; Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet. 1973 Aug 18;2(7825):351-5.
  2. OMIM; Mulibrey Nanism
  3. Karlberg N, Jalanko H, Perheentupa J, et al; Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet. 2004 Feb;41(2):92-8. [abstract]
  4. 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. 1975;11(2):3-17. [abstract]
  5. 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 10;107(22):2810-5. Epub 2003 May 19. [abstract]
Acknowledgements EMIS is grateful to Dr Hayley Willacy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2007.
DocID: 2472
Document Version: 20
DocRef: bgp24837
Last Updated: 23 Apr 2007
Review Date: 22 Apr 2009
Patient UK Current Health News






Disclaimer: Patient UK has no control over the content of any external links above. Inclusion does not imply endorsement by Patient UK.

Want to advertise on this site? Find out how >>







Disclaimer: Patient UK has no control over the content of any external links above. Inclusion does not imply endorsement by Patient UK.

Want to advertise on this site? Find out how >>

PS - Health and Poverty

Perhaps the biggest cause of ill health in the world is poverty. Help to Make Poverty History. For example, why not lend some of your money to disadvantaged communities to enable them to trade their way out of poverty through schemes such as Shared Interest.

See also MAKEPOVERTYHISTORY North East for details and links to campaigns against poverty.

^ Top of Page