© 2017, GENASSIST, Inc.
By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.
Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.
Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center
Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital
Bardet Biedl Syndrome is a disease with a carrier frequency of (1 in 250 to 1 in 2200) and affects approximately (1 in 140,000) pregnancies.
Bardet Biedl Syndrome: Autosomal recessive inheritance (25% if both parents are gene carriers) with an additional modifier gene has been described.
Bardet Biedl Syndrome is a disorder that can affect different parts of the baby. Vision loss, obesity, extra fingers and/or toes and developmental delay has been described.
Life threatening kidney problems have been described in some individuals.