Pediatric Endocrinology Terminology Bardet-Biedl Syndrome NICHD An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills. Laurence-Moon Syndrome Bardet-Biedl Syndrome Laurence-Moon-Biedl Syndrome C118632 BBS Disease or Syndrome Cellosaurus C0752166 Laurence-Moon-Bardet-Biedl Syndrome A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia. Bardet-Biedl Syndrome Pediatric Nephrology Terminology Cellosaurus Disease Terminology Syndrome NICHD Terminology