autosomal recessive disease syndromic developmental defect of the eye Bardet-Biedl syndrome BBS Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems DOID:1935 GARD:0006866 ICD10:Q87.8 ICD10:Q87.89 ICD9:759.89 Laurence-Moon syndrome Laurence-Moon-Bardet-Biedl syndrome Laurence-Moon-Biedl syndrome MESH:D020788 MONDO:0015229 MedDRA:10056715 NCIT:C118632 OMIMPS:209900 Orphanet:110 SCTID:5619004 UMLS:C0752166 rare disorder with congenital hypogonadotropic hypogonadism syndromic genetic obesity female infertility due to a congenital hypogonadotropic hypogonadism familial cystic renal disease syndromic retinitis pigmentosa unclassified primitive or secondary maculopathy intestinal motility disease nephropathy-associated ciliopathy retinal ciliopathy genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome