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Diseases » Brachymetacarpalia » Glossary
 

Glossary for Brachymetacarpalia

  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Bone conditions: Conditions that affect the bones
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • Hand conditions: Any condition that affects the hand
  • Holt-Oram Syndrome: A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
  • Infection: Infections as a symptom.
  • Injury: Any damage inflicted in the body
  • Ivic Syndrome: A very rare disorder characterized by finger and hand bone abnormalities (radial ray defects), crossed eyes, deafness and other variable anomalies.
  • Juberg-Hayward syndrome: A rare hereditary disorder characterized by a growth hormone deficiency as well as mouth and limb abnormalities.
  • Juvenile Rheumatoid Arthritis: Chronic arthritis affecting children and teens
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Nevoid basal cell carcinoma syndrome: A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities.
  • Pseudohypoparathyroidism: An inherited disorder where the body is unable to respond to the parathyroid hormone even though there are normal levels of it. Impaired bone growth is the main feature of this disorder.
  • Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
  • Upper limb conditions: Any medical condition affecting the upper limbs, i.e. the arms, elbows, hands, etc.

 

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