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Results 1 - 10 of 14 for Metaphyseal "chondrodysplasia," McKusick type
  1. Cartilage-hair hypoplasia 
    ... hair syndrome CHH McKusick's metaphyseal chondrodysplasia syndrome Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, recessive type Genetic Testing Registry: Metaphyseal ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  2. Cartilage Hair Hypoplasia (For Parents) (Nemours Foundation)  
    Bone Diseases/Children ... Bone Diseases ... Genetic Disorders/Children ... Genetic Disorders ... Connective Tissue Disorders/Children ... Connective Tissue Disorders ... Nemours Foundation
    https://kidshealth.org/en/parents/cartilage-hair-hypoplasia.html - External Health Links
  3. RMRP gene 
    ... Health Condition More than 100 mutations that cause cartilage-hair hypoplasia have been identified in the RMRP gene. Approximately ... growth (hypotrichosis), and other signs and symptoms of cartilage-hair hypoplasia. More About This Health Condition RMRP gene mutations, ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  4. Anauxetic dysplasia 
    ... of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 ... CT, Rauch A. The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics
  5. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  6. Connective Tissue Disorders (National Library of Medicine)  
    Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts ...
    https://medlineplus.gov/connectivetissuedisorders.html - Health Topics
  7. Dwarfism (National Library of Medicine)  
    People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often ...
    https://medlineplus.gov/dwarfism.html - Health Topics
  8. Genetic Disorders (National Library of Medicine)  
    Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the ...
    https://medlineplus.gov/geneticdisorders.html - Health Topics
  9. Dwarfism (For Parents) (Nemours Foundation)  
    dwarfism, cartilage-hair hypoplasia, hypochondroplasia, pseudoachondroplasia, campomelic dysplasia, primordial dwarfism, achondroplasia, metatropic dysplasia, kniest dysplasia, multiple epiphyseal dysplasia, ellis-van creveld ...
    https://kidshealth.org/en/parents/dwarfism.html - External Health Links
  10. Pseudoachondroplasia (For Parents) (Nemours Foundation)  
    pseudoachondroplasia, dwarfism, cartilage-hair hypoplasia, hypochondroplasia, pseudoachondroplasia, campomelic dysplasia, primordial dwarfism, achondroplasia, metatropic dysplasia, kniest dysplasia, multiple epiphyseal dysplasia, ellis-van creveld dysplasia, ...
    https://kidshealth.org/en/parents/pseudoachondroplasia.html - External Health Links
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