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Glossary for McKusick type metaphyseal chondrodysplasia

  • Bone conditions: Conditions that affect the bones
  • Cartilage Hair Hypoplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Fine hair: also called lanugo is the fine hair which grows in an attempt to insulate the skin due to lack of fat
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hair conditions: Any disorder the affects the hair
  • Hair loss: Loss or thinning of head or body hair
  • Lymphopenia: A decreased number of lymphocytes (white blood cells) in the blood which can be caused by many conditions
  • Malabsorption: Failure to digest nutrients properly
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Neutropenia: Reduced number of granulocytes in the blood
  • Obesity: An increase in the body weight greater than that required for normal function that is characterised by the accumulation of excessive fat
  • Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate

 

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