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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.
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.
Dr Huw Thomas
Dr Hayley Willacy