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Mulibrey nanism

Peer reviewed by Patient clinician teamLast updated by Dr Hayley Willacy, FRCGP Last updated 17 Jul 2009

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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.

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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)

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Management

  • Supportive

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

Further reading and 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. Mulibrey Nanism, Online Mendelian Inheritance in Man (OMIM)
  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.
  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.
  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.

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Article history

The information on this page is written and peer reviewed by qualified clinicians.

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