[MIM 266 920]

see also nephronophthisis

(conorenal syndrome)

Rare. Autosomal recessive transmission of a mutation of IFT140 gene (16p13.3) involved in intraciliary transport of proteins. Close to the Senior-Loken syndrome (see this term)

Association of:

-        retinal anomaly: early onset retinitis pigmentosa and severe, progressive loss of night vision

-        renal disease: nephronophthisis, progressive renal insufficiency

-        skeletal dysplasia: cone-shaped epiphyses of the phalangese, short stature

-        cerebellar ataxia

Sometimes: synostosis, hepatic fibrosis.

Anesthetic implications:

chronic renal failure, blindness

References : 

-        Vanhoenacker FM, Van Hoeck K.  
MR findings of dysplastic hips in Saldino-Mainzer syndrome. 
JBR-BTR 2008; 91:21

-         Perrault I, Saunier S, Hanein S, Filhol E et al.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 
Am J Human Genet 2012; 90: 864-70.

Updated: September 2018