Laurence-Moon Syndrome

Synonyms: Laurence Moon Biedel Syndrome, Laurence-Moon Bardet-Biedel syndrome, Adipogenital-Retinitis Pigmentosa Syndrome, LM syndrome, LMBB syndrome.

This is a rare autosomal recessive condition, whose main features are mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia.¹ It is probably a variant of Bardet-Biedel syndrome without obesity or polydactyly.² For this reason it is sometimes known as the Laurence-Moon-Biedel Syndrome or the Laurence-Moon-Bardet-Biedel Syndrome.

• Short Stature (no obesity)
• Pigmentary retinopathy, nystagmus and choroidal atrophy
• Micropenis with hypoplastic scrotum
• Mental retardation, ataxia with spastic paraplegia

• John Zachariah Laurence was a British ophthalmologist, born 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.