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Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome

This is a rare autosomal recessive condition.

Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered valid terms, because the patients of Laurence and Moon had paraplegia, but no polydactyly or obesity, which are the main characteristics of Bardet-Biedl syndrome.[1, 2]

These are:[3]

There are no treatments specific to this syndrome. Management of the features outlined above is multidisciplinary:

  • Ophthalmic support for worsening vision.
  • Endocrinology advice regarding short stature and hypogonadism. Growth hormone treatment may be useful.
  • Speech therapy.
  • Renal opinion.

Life expectancy is lower than that of the general population. Renal disease is a common primary or contributing cause of death.

  • John Zachariah Laurence (1829-1870) was a British ophthalmologist. He was a founder of the South London Ophthalmic Hospital, later known as the Royal Eye Hospital.
  • Robert Charles Moon (1844-1914) was born in Brighton and qualified in London. He emigrated to the USA in 1879, having been a surgeon at the South London Ophthalmic Hospital. He worked in Philadelphia.
  • Arthur Biedl (1869-1933) was an endocrinologist born in Hungary. However, he qualified in Vienna and later became professor at the Institute of Pathology in Vienna.
  • Georges Louis Bardet was a French physician born 1885. Very little is known about him, not even his date of death.

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Further reading and references

  1. M'hamdi O, Ouertani I, Chaabouni-Bouhamed H; Update on the genetics of bardet-biedl syndrome. Mol Syndromol. 2014 Feb5(2):51-6. doi: 10.1159/000357054. Epub 2013 Dec 20.

  2. Bardet-Biedl Syndrome 1, BBS1; Online Mendelian Inheritance in Man (OMIM)

  3. Laurence-Moon Syndrome; Online Mendelian Inheritance in Man (OMIM)