Thelansis

 Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive defect belonging to the family of ciliopathies. Children born from consanguineous marriages are mostly affected. The primary manifestations of BBS are rod-cone dystrophy (90 to 93%), postaxial polydactyly (62-82%), obesity (73-91%), learning disabilities (62%), genital abnormalities (59-98%), and renal abnormalities both morphological and functional (53%). The visual prognosis for children with BBS is poor, with a mean age of legal blindness of 15 years. Significant weight gain begins within the first year and becomes a lifelong issue for most individuals. Most individuals have significant learning difficulties, but only a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality. Clinical findings establish the diagnosis of BBS. Multiple genes are known to be associated with BBS: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), ...

 Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive defect belonging to the family of ciliopathies. Children born from consanguineous marriages are mostly affected. The primary manifestations of BBS are rod-cone dystrophy (90 to 93%), postaxial polydactyly (62-82%), obesity (73-91%), learning disabilities (62%), genital abnormalities (59-98%), and renal abnormalities both morphological and functional (53%). The visual prognosis for children with BBS is poor, with a mean age of legal blindness of 15 years. Significant weight gain begins within the first year and becomes a lifelong issue for most individuals. Most individuals have significant learning difficulties, but only a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality. Clinical findings establish the diagnosis of BBS. Multiple genes are known to be associated with BBS: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), ...