Table 11.2.

Ciliopathies

Ciliopathy	Organ systems affected	References
Alström Syndrome	Visual, auditory, cardiovascular, endocrine, hepatic, renal, skeletal, neural	Hearn et al. (2005)
Bardet–Biedl Syndrome	Skeletal, neural, visual, renal, reproductive	Ansley et al. (2003)
Birt–Hogg–Dubé Syndrome	Renal (carcinoma and cysts), lung, integumentary	Luijten et al. (2013)
Ellis van Creveld Syndrome	Skeletal, cardiac	Ruiz-Perez and Goodship (2009)
Jeune Syndrome	Skeletal, renal	Beales et al. (2007)
Joubert Syndrome	Renal, visual, neural	Louie and Gleeson (2005)
Juvenile cystic kidney disease	Renal	Smith et al. (2006)
Kartagener Syndrome/Primary ciliary dyskinesia	Respiratory, neural, laterality, reproductive	Afzelius (1976), Camner et al. (1975)
Leber congenital amaurosis	Visual	den Hollander et al. (2007)
Meckel–Gruber Syndrome	Renal, neural, hepatic	Dawe et al. (2007)
Nephronophthisis	Renal	Otto et al. (2003)
Orofaciodigital Syndrome 1	Skeletal	Romio et al. (2004)
Polycystic kidney disease	Renal, hepatic, cardiovascular	Pazour et al. (2000)
Retinitis pigmentosa	Visual	Hong et al. (2001)
Senior–Loken Syndrome	Renal, visual	Otto et al. (2005)
Sensenbrenner Syndrome	Skeletal	Walczak-Sztulpa et al. (2010)
Tuberous sclerosis	Neural, integumentary, cardiovascular, renal, respiratory	Hartman et al. (2009)
Usher Syndrome	Visual, auditory	Bonneau et al. (1993)
Von Hippel–Lindau	Tumors in blood vessels and adrenal glands, renal (carcinoma and cysts)	Esteban et al. (2006)