Disease Information for Wieacker-Wolff X-linked syndrome

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Clinical Manifestations
Signs & Symptoms
Apraxia/dyspraxia
Demographics & Risk Factors
Sex & Age Groups
Population/Male
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq13-q21
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
Definition

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Wieacker syndrome (Xq13-q21) gene locus Xq13-q21 Wiecker syndrome :Alternative titles; CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA ; APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY; WIEACKER-WOLFF SYNDROME; WWS; X-linked syndrome in 6 men in 4 sibships of 3 generations of a family, genealogically connected through presumably carrier females; extremely rare disease; All had congenital contractures of the feet at birth, a slowly progressive predominantly distal muscle atrophy, dyspraxia of the eyes, face and tongue muscles, and mild mental retardation; Clinical Synopsis: Limbs : Congenital foot contractures; Muscle : Slowly progressive predominantly distal muscle atrophy ; Neuro : Dyspraxia of eye, face and tongue muscles; Mild mental retardation ; Inheritance : X-linked recessive(Xq)-----------[OMIM Nov 2004]------------------ Wieacker Syndrome is a rare genetic disorder characterized by deformities of the feet (contracture), muscle atrophy, mild mental retardation and an impaired ability to move certain muscles of the eyes, face and tongue; Wieacker Syndrome is inherited as an X-linked recessive trait----[Nord 2005]-------------

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External Links Related to Wieacker-Wolff X-linked syndrome
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NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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