Laurence-Moon syndrome

Definition:

Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, and spastic paraplegia. Polydactyly and renal disease are absent. So it is distinct from Bardet-Biedl syndrome.

References:

[1]. A A ROTH, et al. Familial eunuchoidism; the Laurence-Moon-Biedl syndrome. J Urol. 1947 Mar;57(3):427-45. [Content Brief]

[2]. Robert B Hufnagel, et al. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb;52(2):85-94. [Content Brief]

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