Disease Information for Jackson-Weiss Craniosynostosis syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Face broad/flat midface
Facies particular
Midfacial hypoplasia/flat face dysmorphism
Broad great toes
Foot deformity
Snoring
Dysmorphic appearance/face
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Craniosynostos Flat face Broad toes Foot deformities
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Population/Infant
Population/Neonate-newborn
Diagnostic Test Results
X-RAY
Xray/Skull abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Craniosynostosis
Facial dysplasia
Jackson Weiss Craniosynostosis syndrome
Malformation metatarsals/foot bones
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Skeletal (category)
CLASS/Skull disorder (ex)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Definition

Rare genetic syndrome dominant or sporatic; Jackson Weiss Syndrome; Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities; Jackson-Weiss Craniosynostosis; Jackson-Weiss Syndrome (JWS) shows distinctive malformations of the head and facial (craniofacial) area and several abnormalities of the feet; Penetrance is variable, even in the same family kindred; premature closure of cranial sutures (craniosynostosis); flat underdeveloped midfacial regions; (midfacial hypoplasia); broad great toes;

malformed fusion of certain bones within the feet; may be inherited as an autosomal dominant trait

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External Links Related to Jackson-Weiss Craniosynostosis syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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