Disease Information for Laurence-Moon-Biedel syndrome

Bardet Biedl Syndrome

Biedl-Bardet Syndrome

Disorder Subdivisions

General Discussion

Bardet-Biedl Syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. Major features of these disorders may include mental retardation, obesity, delayed sexual development or underdeveloped reproductive organs, progressive pigmentary degeneration of the retinas of the eyes, kidney abnormalities in structure or function, and/or abnormal or extra fingers and/or toes. Confusion exists in the medical literature regarding the difference between Bardet-Biedl Syndrome and Laurence-Moon Syndrome. [NORD 2005]\---------------------------

.Laurence-Moon Syndrome

Previously known as: Laurence Moon Biedel Syndrome, Laurence-Moon Bardet-Biedl syndrome

This genetic autosomal recessive disorder presents in childhood and is characterised by progressive neurological, ophthalmic and endocrine manifestations which deteriorate to cause eventual blindness and spastic paraplegia.

Presentation Hypogenitalism is present at birth (hypogonadotrophic hypogonadism noted postpubertally). Retinitis pigmentosa (night blindness and progressive visual loss), mental retardation and ataxia become apparent during childhood. The progressive spastic paraplegia results in a bedridden state by early adulthood.

Management There is no treatment for underlying condition. A multidisciplinary approach is required involving paediatrics, neurology, ophthalmology, endocrinology and genetic counselling.

This syndrome is distinct from the Bardet-Biedl syndrome because of the presence of paraplegia; and absence polydactyly and obesity. [Patient Knowledge. com pk 2005]

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