NPH phenotypically presents either as isolated renal disease or as a complex syndrome with manifestation in multiple organs. Most often affected organs are the eyes, liver, skeleton or the central nervous system:

Ophthalmological phenotype:

The eyes are most frequently affected in NPH. A rough distinction in two different ways of affection is made: the impairment of ocular movements (oculomotor apraxia e.g. Cogan) and disorders of the retina (retinitis pigmentosa e.g. Senior – Løken Syndrome). The severe congenital form of retinitis pigmentosa (Leber’s congenital amaurosis) is associated with congenital blindness, nystagmus and pupils unresponsive to light. Retinitis pigmentosa has a later onset, first manifests with night blindness and has a slow progress of visual impairment.

Central nervous system:

Different neurological abnormalities can be associated with NPH including oculomotor apraxia, cerebellar hypoplasia, muscular hypotension, seizures, encephalocele, delay of speech development and cognitive impairment.

Skeleton:

Polydactyly, short finger and thoracic deformation are for instance common in Jeune asphyxiating thoracic dysplasia. Cone shaped epiphysis are characteristic for Mainzer – Saldino syndrome. Different other skeletal abnormalities can be associated with NPH and are summarized as ciliary chondrodysplasic syndromes.

Liver:

Congenital liver fibrosis can be found in different ciliopathies (e.g. Boichis syndrome, Arima syndrome, Meckel – Gruber syndrome) and can be isolated or associated with NPH and abnormalities in other organs.

Situs inversus and congenital heart defects:

Situs inversus and congenital heart defects (especially atrial septal defect) are most common in infantile NPH but can also be found in other ciliopathies.

NPH can appear as a renal manifestation of clearly defined syndromes summarized as NPH related ciliopathies (NPH – RC). The following picture shows the most important syndromes:

Nephronophthisis and extrarenal symptoms - summary

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