Saturday, February 15, 2014

Waardenburg Syndrome

Waardenburg Syndrome Overview

The condition known as Waardenburg Syndrome contains four different subdivisions which are placed in their categories based on the conditions present in the affected individual. Each individuals symptoms may vary depending on the case however, there are some symptoms that tend to be present in each patient diagnosed with Wardenburg's Syndrome including:
  • congenital hearing loss (in about 58% of individuals)
  • loss of pigment in skin
  • usually a white streak of hair growing above the forehead and eventual premature greying of the hair (around the age of 30)
  • bright blue eyes or two different colored eyes (heterochromia)
  • nose abnormalities
  • eyebrows extending towards the middle of the face
  • wide nasal bridge
A young boy with Waardenburg Syndrome courtesy of
Waardenburg Syndrome type 1 (WS1) and 2 (WS2) a dominate
trait meaning that a parent with this trait has a 50% chance of passing it down to their children. Whereas types III (WS3) and IV (WS4) have a recessive pattern of inheritance.

Types of Waardenburg Syndrome

 Waardenburg Syndrome can be split up into four different categories depending on the symptoms present in the affected individual. The following types are:
  1. Type 1 (WS1): characterized by sideways displacement of the inner angles of the eyes (dystopia canthorum), bilateral malformations of the upper limbs
  2. Type 2 (WS2): characterized by the absence dystopia canthorum, more frequent cases of heterochromia and deafness.
  3. Type 3 (WS3 also known as Klein-Waardenburg Syndrome): has some characteristics of WS 1 but may include underdeveloped upper limbs, abnormal bending in joints, webbing and fusion of certain fingers and other skeletal abnormalities.
  4. Type 4 (WS4 or Waardenburg-Hirschprung disease also known as aganglionic megacolon): characterized by gastrointestinal abnormalities where the individual could suffer from loss of appetite, abdominal bloating, vomiting, slow growth, brain and spinal chord abnormalities that affect extension and flexion of joints and muscle weakness.
A young girl with Waardenburg Syndrome courtesy of

Waardenburg Syndrome History

The name Waardenburg comes from an investigator who first discovered the disorder in 1951. There have been around 1,400 documented cases. Waardenburg Syndrome occurs in around one in every 40,000 births and affects males and females equally.

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