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.¹

Features

These are: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, e.g. clubbing, diverticula or calyceal cysts.

Management

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.

Prognosis

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.³

Historical aspects

• 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.

Document references

1. Bardet-Biedl Syndrome, Online Mendelian Inheritance in Man (OMIM).
2. Laurence-Moon Syndrome, Online Mendelian Inheritance in Man (OMIM)
3. Riise R; The cause of death in Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol Scand Suppl. 1996;(219):45-7. [abstract]

Acknowledgements