Disease Information for Metaphyseal chondrodysplasia

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Clinical Manifestations
Signs & Symptoms
Adolescent
Leg/lower extremity pains
Short arms/legs
Waddling Trendelenberg Gait
Flaring costal margins
Bowing of extremities
Bowlegged/Genu varus
Coxa varus deformity
Dysmorphic dwarfism/short stature
Flaring lower rib cage
Short Limbs Deformity
Skeletal problems/symptoms/signs
Short stature
Short stature Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Adolescent
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
CD4 helper T-cells decreased (Lab)
Diagnostic Test Results
Pathology
PATH/Cartilage biopsy/Abnormal
X-RAY
Xray/Delayed fontanelle closure
Xray/Delayed cranial ossification in a child/Head
Xray/Joint abnormal
Xray/Joint cartilage calcification
Xray/Metaphysis lesion/Site usual
Xray/Ribs/anterior enlargements, symmetrical
Associated Diseases & Rule outs
Associated Disease & Complications
Chondrodystrophy
Dwarfism
Hip arthritis
Immunodeficiency
Knee arthritis
Metaphyseal chondrodysplasia (Schmid type)
Nanism/dwarfism
Rib anomalies/Hypoplastic/deformed
Skeletal dysplasia
Skeletal/bone malformations
Disease Mechanism & Classification
Class
CLASS/Humoral Immune System Disorder (ex)
CLASS/Pediatric disorders (ex)
CLASS/Cartilage involvement/disorder (ex)
CLASS/Metaphysis Lesion/Involvement
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Metaphysis dysplasia/dysostosis
Pathophysiology/Decreased T Cells
Pathophysiology/Defective cellular immunity
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
dysplasia metaphyseal, Metaphyseal dysplasia, Pyle, Pyle disease, Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia (disorder), Pyle's disease, Pyle's metaphyseal dysplasia syndrome, Synonym/Metaphyseal dysostosis Schmid type, Synonym/Schmid type metaphyseal chondrodysplasia, Synonym/Short-limbed dwarfism
Treatment
Drug Therapy - Indication
RX/No treatment
Other Treatments
TX/Genetic counselling
Definition

McKusick Type Metaphyseal Chondrodysplasia; CHH;

Cartilage-Hair Hypoplasia;

McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia, is a rare progressive inherited disorder characterized by unusually fine, sparse hair and short stature with abnormally short arms and legs (short-limbed dwarfism); Portions of the long 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); In addition, most individuals with McKusick type metaphyseal chondrodysplasia may exhibit impairment of specialized cells (T-cells) that play an important role in helping the body"s immune system to fight infection (cellular immunodeficiency); Affected individuals may also have abnormally low levels of certain white blood cells (neutropenia and lymphopenia); low levels of circulating red blood cells (anemia); and/or increased susceptibility to certain infections, such as chickenpox; In some cases, affected infants may also exhibit improper intestinal absorption of certain necessary nutrients (malabsorption) and/or dental abnormalities such as unusually small teeth (microdontia); Some individuals with the disorder may also have additional physical abnormalities; The range and severity of symptoms vary widely from case to case; McKusick type metaphyseal chondrodysplasia is inherited as an autosomal recessive trait---------------------

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External Links Related to Metaphyseal chondrodysplasia
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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