Disease Information for Pleonosteosis, Leri type

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Clinical Manifestations
Signs & Symptoms
Dysmorphic appearance/face
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Skeletal dysplasia
Skeletal/bone malformations
Disease Mechanism & Classification
Class
CLASS/Bone disorder (ex)
CLASS/Skeletal (category)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditary developmental disorder (ex)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Leri Pleonosteosis; Pleonosteosis, Leri Type; Leri Pleonosteosis is an extremely rare inherited disorder characterized by unusual, flattened facial features, abnormalities of the hands and feet, skeletal malformations, short stature, and/or limitation of joint movements; Characteristic abnormalities of the hands and feet may include unusually broad and/or short thumbs and great toes (brachydactyly) that may be bent outward from the body (valgus position); as a result, the hands may have a "spade-shaped" appearance; Skeletal malformations may include knees that are bent backward (genu recurvitum) and abnormal enlargement of the cartilaginous structures that surround the upper portion of the spinal cord (posterior neural arches of the cervical vertebrae); In addition, affected individuals may develop thickened tissue on the palms (palmar) and forearms; Symptoms may vary from case to case; Leri Pleonosteosis is inherited as an autosomal dominant genetic trait----[NORD]----------------

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External Links Related to Pleonosteosis, Leri type
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Wikipedia
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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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