Laurence-Moon syndrome

noun

Lau·​rence-Moon syndrome

ˈlȯr-ən(t)s-ˈmün-

: a genetic disorder that is a ciliopathy characterized especially by obesity, ataxia, learning disabilities, kidney abnormalities, short stature, subnormal development of the genital organs, retinitis pigmentosa, and type 2 diabetes

Note: Laurence-Moon syndrome is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. Laurence-Moon syndrome was first called Laurence-Moon-Biedl syndrome until cases presenting with polydactyly and without obesity led to creation of a new disease entity, Bardet-Biedl syndrome. Because the differences between Laurence-Moon syndrome and Bardet-Biedl syndrome are not always clearly defined, some consider Laurence-Moon syndrome to be a variant form of Bardet-Biedl syndrome.