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- Disease Information
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Disease Information for Jansen's metaphyseal chondrodysplasia (unco)
- 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
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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)------------------
(Edit)
- External Links Related to Jansen's metaphyseal chondrodysplasia (unco)
- 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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