Table 2.

Clinical and respiratory manifestations associated with sensory ciliopathies.

Primary ciliopathy	Typical clinical manifestations	Respiratory manifestations	Gene(s)
Autosomal recessive polycystic kidney disease	Cystic renal disease, hepatic fibrosis	Bronchiectasis	PKHD1
Bardet-Biedl syndrome	Obesity, polydactyly, cognitive delays, retinitis pigmentosa., renal anomalies, anosmia, congenital heart disease	Motile ciliary tip vesicles (unclear clinical significance)	ARL6, BBS1-12, CEP290, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, WDPCP
Retinitis pigmentosa	Photophobia, night blindness, progressive blindness,	Chronic sinusitis, serous otitis, recurrent bronchitis, bronchiectasis	RP1, RP2, RPGR, PRPH2, RP9, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, SEMA4A, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, BEST1, TTC8, C2ORF71, A RL6, ZNF513,BHDDS, PRPH2, LRAT, SPATA7, CRX
Usher syndrome	Congenital hearing loss, retinitis pigmentosa.	Bronchiectasis	MYO7A, GPR98, PDZD7, WHRN, HARS
Cranioectodermal dysplasia (Sensenbrenner syndrome)	Sagital craniosynostosis, facial anomalies, skeletal defects, hypodontia, nephronophthisis	Neonatal respiratory distress, recurrent bronchopneumonia,	WDR35, IFT43, WDR19
Short-rib thoracic dysplasia (Ellis-van Creveld syndrome, Jeune syndrome, short rib-polydactyly syndrome, Mainzer-Saldino syndrome).	Small thoracic cage, short ribs, skeletal anomalies, polydactyly, cystic renal disease	atelectasis Pulmonary restriction, respiratory failure	WDR34, WDR35, DYNC2H1, NEK1, WDR60, TTC21B, WDR19, IFT140, IFT80, IFT139, IFT172, CEP120, KIAA0586