Table 1.

Extrarenal manifestations associated with NPHP and resulting syndromes associated with NPHP mutations.

Ophthalmologic disorder	Syndrome
Retinitis pigmentosa	Senior-Loken syndrome (SLSN)
	Arima syndrome (cerebro-oculo-hepato-renal syndrome)
	Alstrom (RP, obesity, DM type 2, hearing impairment)
	RHYNS (RP, hypopituitarism, skeletal dysplasia)
Oculomotor apraxia	Cogan syndrome
Nystagmus	Joubert syndrome/Joubert syndrome related disorders
Coloboma	Joubert syndrome/Joubert syndrome related disorders
Skeletal disorder
Short ribs	Jeune syndrome/asphyxiating thoracic dystrophy
Cone-shaped epiphysis	Mainzer-Saldino syndrome
Postaxial polydactyly	Joubert syndrome/Joubert syndrome related disorders
	Bardet-Biedl syndrome(NPH P, RP, obesity, deafness)
	Ellis van Creveld
Skeletal dysplasia	Sensenbrenner syndrome / cranioectodermal dysplasia
	Ellis van Creveld
Neurological disorder
Encephalocele	Meckel-Gruber syndrome (occipital encephalocele, NPHP)
Vermis aplasia	Joubert syndrome/Joubert syndrome related disorders
Hypopituitarism	RHYNS (RP, hypopituitarism, skeletal dysplasia)
Hepatic disorder
Liver fibrosis	Boichis syndrome
	Meckel-Gruber syndrome (occipital encephaolocele, NPHP)
	Arima syndrome (cerebro-oculo-hepato-renal syndrome)
	Joubert syndrome/Joubert syndrome related disorders
Others
Situs inversus
Cardiac malformation
Bronchiectasis
Ulcerative colitis

RP, retinitis pigmentosa/retinal degeneration; DM, diabetes mellitus; NPHP, nephronophthisis