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Waardenburg syndrome

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

 

Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color.

Causes

 

Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent has to pass on the faulty gene for a child to be affected.

There are 4 main types of Waardenburg syndrome. The most common are type I and type II.

Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are rarer.

The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.

 

Symptoms

 

Symptoms may include:

  • Cleft lip (rare)
  • Constipation
  • Deafness (more common in type II disease)
  • Extremely pale blue eyes or eye colors that don't match (heterochromia)
  • Pale color skin, hair, and eyes (partial albinism)
  • Difficulty completely straightening joints
  • Possible slight decrease in intellectual function
  • Wide-set eyes (in type I)
  • White patch of hair or early graying of the hair

Less common types of this disease may cause problems with the arms or intestines.

 

Exams and Tests

 

Tests may include:

  • Audiometry
  • Bowel transit time
  • Colon biopsy
  • Genetic testing

 

Treatment

 

There is no specific treatment. Symptoms will be treated as needed. Special diets and medicines to keep the bowel moving are prescribed to those people who have constipation. Hearing should be checked closely.

 

Outlook (Prognosis)

 

Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications.

 

Possible Complications

 

Complications may include:

  • Constipation severe enough to require part of large bowel to be removed
  • Hearing loss
  • Self-esteem problems, or other problems related to appearance
  • Slight decreased intellectual functioning (possible, unusual)
  • Slight increased risk for muscle tumor called rhabdomyosarcoma

 

When to Contact a Medical Professional

 

Genetic counseling may be helpful if you have a family history of Waardenburg syndrome and plan to have children. Call for a hearing test if you or your child has deafness or decreased hearing.

 

 

References

Milunsky JM. Waardenburg syndrome type I. GeneReviews. Seattle WA: University of Washington; 2014:8. Accessed August 1, 2015. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703.

 
  • Broad nasal bridge

    Broad nasal bridge - illustration

    Broad nasal bridge, or widening of the base of the nose, is a relative term. It can be a normal facial feature, but it can also be associated with certain congenital disorders such as basal cell nevus syndrome, or trisomy 8, a chromosome defect.

    Broad nasal bridge

    illustration

  • Sense of hearing

    Sense of hearing - illustration

    Sound waves travel from the external ear to the middle ear, pass through the eardrum and enter the inner ear where they are interpreted and communicate with neural structures.

    Sense of hearing

    illustration

    • Broad nasal bridge

      Broad nasal bridge - illustration

      Broad nasal bridge, or widening of the base of the nose, is a relative term. It can be a normal facial feature, but it can also be associated with certain congenital disorders such as basal cell nevus syndrome, or trisomy 8, a chromosome defect.

      Broad nasal bridge

      illustration

    • Sense of hearing

      Sense of hearing - illustration

      Sound waves travel from the external ear to the middle ear, pass through the eardrum and enter the inner ear where they are interpreted and communicate with neural structures.

      Sense of hearing

      illustration

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Waardenburg syndrome

           

             

            Review Date: 8/1/2015

            Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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