Wieacker-Wolff syndrome

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Wieacker-Wolff syndrome2016-11-28T13:30:22+00:00

Wieacker-Wolff syndrome

NEUROLOGY, ORTHOPAEDICS

An über rare–6-cases in the world literature–X-linked condition (OMIM:314580) characterised by malformed feet (pes cavus, pes equino-varus, flexed toes), progressive contractures of other joints, progressive distal amyotrophy, oculomotor and facial apraxia, dysarthria, dysphagia and mild mental retardation. Heterozygote females are asymptomatic. Management is symptomatic for orthopaedic changes and mental retardation.

Molecular pathology Defects of ZC4H2, which encodes zinc finger—C4H2 domain containing, a protein that may play a role in neuronal development and in neuromuscular junction formation, cause Wieacker-Wolff syndrome. 

Synonyms Apraxia—oculomotor—with congenital contractures and muscle atrophy, contracture of feet—muscle atrophy—and oculomotor apraxia, Wieacker syndrome 

References http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3454

http://omim.org/entry/314580

http://www.uniprot.org/uniprot/Q9NQZ6

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