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McKusick Type Metaphyseal Chondrodysplasia

Abstract

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Synonyms of McKusick Type Metaphyseal Chondrodysplasia

  • Cartilage-Hair Hypoplasia
  • Cartilage-Hair Hypoplasia
  • CHH
  • CHH
  • ESS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

McKusick Type Metaphyseal Chondrodysplasia Resources

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, immune dysfunction, blood abnormalities, etc.].)

NORD Member Organizations:

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