Laurence-Moon-Biedl syndrome


Laurence-Moon-Biedl syndrome

 [law´rens mo̳n´ be´d'l] a hereditary autosomal recessive syndrome characterized by obesity, hypogenitalism, retinitis pigmentosa, mental retardation, skull defects, and sometimes webbed fingers or toes.

Laurence-Biedl syndrome

(1) Bardet-Biedl syndrome (see there), OMIM:209900. 
(2) Laurence-Moon syndrome (see there), OMIM:245600. 
Until recently, it was common practice to consolidate these two conditions together as the Laurence-Moon-Bardet-Biedl syndrome.

Laurence-Moon-Biedl syndrome

A rare genetic disorder featuring mental retardation, extra toes or fingers, and a retinal degeneration, RETINITIS PIGMENTOSA, that may progress to blindness. There is no treatment and attempts should be made, by GENETIC COUNSELLING, to prevent further transmission of the gene. (John Zacharias Laurence, 1830–1874, English physician; Richard C. Moon, b. 1926, American pathologist; and Artur Biedl, 1869–1933, Austrian physiologist).

Biedl,

Artur, Austrian physician, 1869-1933. Bardet-Biedl syndrome - see under BardetBiedl diseaseLaurence-Moon-Biedl syndrome - see under Laurence

Laurence,

John Zachariah, English ophthalmologist, 1830-1874. Laurence-Moon-Biedl syndrome - mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia.

Moon,

Robert C., U.S. ophthalmologist, 1844-1914. Laurence-Moon-Biedl syndrome - see under Laurence