[MIM 245 800]

(Laurence syndrome,  adiposogenital syndrome - Retinitis Pigmentosa)

Autosomal recessive transmission. Some cases show a mutation of theBBS5 gene  (2q32) (Bardet-Biedl syndrome) or the MKKS gene (20p12) (McKusick-Kaufman syndrome) .

It is the association of:

-        mental retardation and stunted growth

-        retinitis pigmentosa resulting in early visual disability

-        ataxia and spastic paraplegia (young adult) following spino-cerebellar degeneration

-        hypogenitalism caused by hypogonadotrophic hypogonadism .

Sometimes ENT abnormalities: bifid epiglottis

Now considered as a separate entity from the Bardet-Biedl syndrome with which it has long been associated under the name of syndrome Laurence-Moon-Biedl or Laurence-Moon-Bardet-Bield.

Anesthetic implications:

Behavioral problems, spastic paraplegia.

References : 

• Urben SL, Baugh RF. 
  Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. 
  Otolaryngol Head Neck Surg 199 ; 120 :571-4.

Updated: February 2019