Svensk definition
En autosomal, recessiv störning kännetecknad av retinitis pigmentosa, polydaktyli, övervikt, psykisk funktionsnedsättning, hypogenitalism, njurdysplasi och kortvuxenhet. Syndromet skiljer sig från Laurence-Moons syndrom.
Bardet-Biedl Syndrome
Bardet-Biedls syndrom
Engelsk definition
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Svenska synonymer
Laurence-Moon-Bardet-Biedls syndrom
Engelska synonymer
Bardet Biedl Syndrome — Syndrome, Bardet-Biedl — Laurence-Moon-Bardet-Biedl Syndrome — Laurence Moon Bardet Biedl Syndrome — Syndrome, Laurence-Moon-Bardet-Biedl