Autosomal Dominant Robinow Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

WNT5A, DVL3, DVL1, FZD2, ATR, RAF1, CEP63, CENPJ, LZTR1, SOS1, RIT1, PTPN11, KRAS, DNAAF4, ROR2, PTCH1, SYK, NTRK1, IGF1, GH1

Drugs

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The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Epidemiology

About 100 cases of this type have been reported in the literature to date.

Clinical description

The clinical signs are generally milder in dominant cases of RS than in the AR form. In the presence of rib fusions, the recessive form of the syndrome should be considered.

Etiology

Mutations in WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome.

Genetic counseling

Transmission is autosomal dominant.