Diseases title

Saldino-Mainzer syndrome )

Mut
Orpha Number: 140969
Synonym(s):
Conorenal syndrome, Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia

Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. 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.
source: Orphanet