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Autosomal dominant Robinow syndrome
The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
ORPHA:3107Classification level: Subtype of disorder
About 100 cases of this type have been reported in the literature to date.
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.
Mutations in WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome.
Transmission is autosomal dominant.