Saldino-Mainzer Syndrome

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

IFT140, IFT172, IMMT, WDR19, DYNC2H1

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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

Epidemiology

Around 10 cases have been described in the literature so far.

Clinical description

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.

Genetic counseling

The syndrome is transmitted as an autosomal recessive trait.