Mulibrey Nanism

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Synonyms: muscle-liver-brain-eye nanism, pericardial constriction and growth failure, Perheentupa syndrome[1]

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

  • 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 (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%)

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

  • Supportive
  • Pericardiectomy: this usually provides clinical benefit, but 33% patients have recurring congestive heart failure, because of co-existing myocardial involvement[5]

Further reading & 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.

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

Original Author:
Dr Hayley Willacy
Current Version:
Document ID:
2472 (v21)
Last Checked:
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