Wieacker-Wolff syndrome

An extremely rare (six cases in the world literature) X-linked condition (OMIM:314580) condition characterised by malformations of the feet (pes cavus, pes equinovarus, flexed toes), progressive contractures of other joints, progressive distal amyotrophy, oculomotor and facial apraxia, dysarthria, swallowing difficulties and mild mental retardation. Heterozygote females are asymptomatic. Management is symptomatic for both orthopaedic disease and mental retardation.

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