Thelansis

 Alström Syndrome (AS) is an ultra-rare multisystem genetic disorder caused by pathogenic variants of the ALMS1 gene. The disease is relentlessly progressive in nature which can result in premature death. Misdiagnosis is common. Because so many features of Alström Syndrome develop as children get older, more than seventy percent of the known Alström Syndrome patients have received previous misdiagnoses, and almost half of these have received multiple misdiagnoses. It progresses to severe visual impairment by the end of the second decade in 75%. Obesity develops in early childhood. Progressive bilateral sensorineural hearing loss is more variable, often presenting with high-frequency loss in the first decade but not detectable until much later in the minority. More than 60% of individuals with AS develop cardiomyopathy. This can present as potentially reversible dilated cardiomyopathy in infancy or presenting de novo or recurrence in adolescence with progression to a restrictive pat...

 Alström Syndrome (AS) 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), BBS12,...