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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 and obesity, which are the main characteristics of the Bardet-Biedl syndrome.
- 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 no treatments specific to this syndrome. Multidisciplinary management of the features outlined above:
- 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 considerably younger than the general population. Renal disease has been noted as primary or contributing cause of death in 50% of the diagnoses.
- John Zachariah Laurence was a British ophthalmologist. He was born in 1829 and died 1870. He was a founder of the South London Ophthalmic Hospital, later known as the Royal Eye Hospital.
- Robert Charles Moon was born in Brighton in 1844 and qualified in London but emigrated to the USA in 1879, having been a surgeon at the South London Ophthalmic Hospital. He worked in Philadelphia and died in 1914.
- Arthur Biedl was an endocrinologist born 1869 in Hungary but qualified in Vienna and later became professor at the Institute of Pathology in Vienna. He died in 1933.
- Georges Louis Bardet was a French physician born 1885. Very little is known about him, not even his date of death.
Further reading & references
- Bardet-Biedl Syndrome, Online Mendelian Inheritance in Man (OMIM).
- Laurence-Moon Syndrome, Online Mendelian Inheritance in Man (OMIM)
- Riise R; The cause of death in Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol Scand Suppl. 1996;(219):45-7.
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|Original Author: Dr Huw Thomas||Current Version: Dr Hayley Willacy|
|Last Checked: 26/10/2010||Document ID: 2374 Version: 21||© EMIS|