Disease Information for Jansen's metaphyseal chondrodysplasia (unco)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Short arms/legs
Waddling Trendelenberg Gait
Arthralgias Polyarthralgias
Dysmorphic dwarfism/short stature
Enlarged/deformed joints
Joint Pains
Short Limbs Deformity
Skeletal problems/symptoms/signs
Stiffness of joints
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive/slowly chronic illness
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Neonate-newborn
Laboratory Tests
Abnormal Lab Findings - Increased
Calcium, serum (Lab)
Diagnostic Test Results
Pathology
PATH/Cartilage biopsy/Abnormal
X-RAY
Xray/Long bones abnormality/Skeletal
Xray/Metaphysis lesion/Site usual
Xray/Shortened long bone
Xray/Skull bones thickened
Xray/Skull increased density
Associated Diseases & Rule outs
Rule Outs
Metaphyseal chondrodysplasia (Schmid type)
Associated Disease & Complications
Arthritis
Blindness
Blindness in Children
Chondrodystrophy
Craniosynostosis
Deafness
Dwarfism
Facial dysplasia
Hypercalcemia
Jansens Metaphyseal Chondrodysplasia
Nanism/dwarfism
Skeletal dysplasia
Skeletal/bone malformations
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Cartilage involvement/disorder (ex)
CLASS/Long bone involvement/disorder (ex)
CLASS/Metaphysis Lesion/Involvement
CLASS/Skeletal (category)
CLASS/Skull disorder (ex)
Pathophysiology
Pathophysiology/Metaphysis dysplasia/dysostosis
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Jansen's metaphyseal chondrodysplasia, Synonym/Short-limbed dwarfism
Definition

Jansen Type Metaphyseal Chondrodysplasia; Jansen Disease; Jansen Metaphyseal Dysostosis; Murk Jansen T; bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones ; metaphyseal chondrodysplasia ; short arms and legs and short stature or short-limbed dwarfism); early childhood; Also infants dysmorphic with involved hands and feet ( metacarpals and metatarsals) ; characteristic facial abnormalities and additional skeletal malformations; varied penetrance; some with onset childhood progressive stiffening and swelling of many joints and/or an unusual "waddling gait" and squatting stance; adults develop abnormally hardened sclerotic hypertrophic bones in the back of the head with entrapment neuropathies :blindness and/or deafness; some have hypercalcemia ; most cases of Jansen type metaphyseal chondrodysplasia occur randomly {spontaneous mutation with a normal family history)----------(NORD)------------------

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External Links Related to Jansen's metaphyseal chondrodysplasia (unco)
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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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