Disease Information for Cartilage-hair hypoplasia syndrome

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Clinical Manifestations
Signs & Symptoms
Small nails/congenital
Floppy ear/soft cartilage
Clinical Presentation & Variations
Presentation/Lymphopenia Candidal diarrhea
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chronic lymphopenia
Abnormal Lab Findings - Decreased
Lymphocytes (Lab)
Neutrophiles (Lab)
Abnormal Lab Findings - Increased
Acute lymphopenia/transient
Diagnostic Test Results
Other Tests & Procedures
Skin test anergy
Associated Diseases & Rule outs
Associated Disease & Complications
Anergic status
Candida albicans infection
Cellular immunity defect/deficiency
Granulocytopenia/Neutropenia
Lymphocytopenia
Disease Mechanism & Classification
Class
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Hair involvement/disorder (ex)
CLASS/Cartilage involvement/disorder (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Decreased T Cells
Pathophysiology/Defective cellular immunity
Pathophysiology/Immune/cellular system disorder (ex)
Process
PROCESS/Autosomal recessive disorder (ex)
Synonyms
Synonym
Cartilage hair syndrome, Synonym/Cartilage-hair hypoplasia/short-limb dwarf, Synonym/CHH syndrome
Treatment
Drug Therapy - Indication
SX/Bone marrow transplant
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition
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External Links Related to Cartilage-hair hypoplasia 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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