Table.

Childhood diseases and syndromes associated with motile and sensory ciliopathies.

Pediatric ciliopathy	Clinical manifestations	Gene(s)
Motor
Primary ciliary dyskinesia	Chronic bronchitis, rhinosinusitis, otitis media, laterality defects, infertility, CHD	DNAI1, DNAH5, DNAH11, DNAI2, KTU, TXNDC3, LRRC50, RSPH9, RSPH4A, CCDC40, CCDC39
Sensory
Autosomal recessive polycystic kidney disease	RFD, CHF	PKHD1
Nephronophthisis	RFD, interstitial nephritis, CHF, RP	NPHP1-8, ALMS1, CEP290
Bardet-Biedl syndrome	Obesity, polydactyly, ID, RP, renal anomalies, anosmia, CHD	BBS1-12, MKS1, MKS3, CEP290
Meckel-Gruber syndrome	RFD, polydactyly, ID, CNS anomalies, CHD, cleft lip, cleft palate	MKS1-6, CC2D2A, CEP290, , TMEM216
Joubert syndrome	CNS anomalies, ID, ataxia, RP, polydactyly, cleft lip, cleft palate	NPHP1, JBTS1, JBTS3, JBTS4, CORS2, AHI1, CEP290, TMEM216
Alstrom syndrome	Obesity, RP, DM, hypothyroidism, hypogonadism, skeletal dysplasia, cardiomyopathy, pulmonary fibrosis	ALMS1
Orofaciodigital syndrome type 1	Polydactyly, syndactyly, cleft lip, cleft palate, CNS anomalies, ID, RFD	OFD1
Ellis van Creveld syndrome	Chondrodystrophy, polydactyly, ectodermal dysplasia, CHD	EVC, EVC2
Jeune asphyxiating thoracic dystrophy	Narrow thorax, RFD, RP, dwarfism, polydactyly	IFT80
Sensenbrenner syndrome	Dolichocephaly, ectodermal dysplasia, dental dysplasia, narrow thorax, RFD, CHD	IFT122, IFT43, WDR35
Short rib-polydactyly syndromes	Narrow thorax, short limb dwarfism, polydactyly, renal dysplasia	WDR35, DYNC2H1, NEK1

CHD, congenital heart disease; CHF, congenital hepatic fibrosis; CNS, central nervous system; DM, diabetes mellitus; ID, intellectual disabilities; RFD, renal fibrocystic disease; RP, retinitis pigmentosa.