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Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.
ORPHA:140969Classification level: Disorder
Around 10 cases have been described in the literature so far.
Mild to moderate short stature has also been reported. Radiologic studies reveal shortened phalanges with cone-shaped epiphysis. Femoral epiphyseal and metaphyseal anomalies are common.
The syndrome is transmitted as an autosomal recessive trait.