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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]
- Short stature.
- Retinitis pigmentosa, nystagmus, choroidal atrophy, cataract and squint.
- Micropenis with hypoplastic scrotum.
- Type 2 diabetes mellitus.
- General learning disability.
- Speech delay and deficit.
- Ataxia with spastic paraplegia.
- Renal anomalies - eg, clubbing, diverticula or calyceal cysts.
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 & references
- M'hamdi O, Ouertani I, Chaabouni-Bouhamed H; Update on the genetics of bardet-biedl syndrome. Mol Syndromol. 2014 Feb 5(2):51-6. doi: 10.1159/000357054. Epub 2013 Dec 20.
- Bardet-Biedl Syndrome 1, BBS1; Online Mendelian Inheritance in Man (OMIM)
- Laurence-Moon Syndrome; Online Mendelian Inheritance in Man (OMIM)
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