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Results 1 - 8 of 8 for Cockayne syndrome
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  1. Genetics Home Reference: Cockayne syndrome From the National Institutes of Health (National Library of Medicine)  
    ... gov Research studies OMIM Genetic disorder catalog Conditions > Cockayne syndrome On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed May 2010 What is Cockayne syndrome? Cockayne syndrome is a rare disorder characterized by ...
  2. ... bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome
  3. Cerebro-Oculo-Facio-Skeletal Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    ... COFS) Information Page Synonym(s): Pena Shokeir II Syndrome, Cockayne Syndrome Type II Table of Contents (click to jump ... gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have ...
  4. Growth Disorders (National Library of Medicine)  
    Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be ...
  5. Genetics Home Reference: Dwarfism From the National Institutes of Health (National Library of Medicine)  
    ... atelosteogenesis type 2 campomelic dysplasia cartilage-hair hypoplasia Cockayne syndrome congenital hypothyroidism diastrophic dysplasia Ellis-van Creveld syndrome ...
  6. National Institute of Neurological Disorders and Stroke (National Institute of Neurological Disorders and Stroke)  
    ... Inflammatory Demyelinating Polyneuropathy Chronic Orthostatic Intolerance Chronic Pain Cockayne Syndrome Type II Coffin Lowry Syndrome Coma, including Persistent ...
  7. ... as the localized type (formerly called the Weber-Cockayne type), is characterized by skin blistering that begins ... autosomal recessive Genetic Testing Registry: Epidermolysis bullosa simplex, Cockayne-Touraine type Genetic Testing Registry: Epidermolysis bullosa simplex, ...
  8. ... names do people use for Pelizaeus-Merzbacher disease? Cockayne-Pelizaeus-Merzbacher Disease PMD sclerosis; brain, Pelizaeus-Merzbacher ... Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare ...