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Home > Professional Reference > Mulibrey Nanism

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Mulibrey Nanism

This PatientPlus article is written for healthcare professionals so the language may be more technical than the condition leaflets. You may find the abbreviations list helpful.

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 as a genetic abnormality which results in short stature.

Clinical features

Feeding difficulties and respiratory tract infections are the most common problems in infancy.3

  • Growth failure of prenatal origin and congenital short stature4
  • 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 (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

Wilms' tumour
Cystic dysplasia of bone (usually the tibia)

Management

  • Supportive
  • Pericardiectomy: this usually provides clinical benefit, but 33% patients have recurring congestive heart failure, because of co-existing myocardial involvement5

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 2009.
Document ID: 2472
Document Version: 21
Document Reference: bgp24837
Last Updated: 15 Jun 2009
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