Waardenburg Syndrome, Type 2

Background and History: 

Waardenburg syndrome is named after a Dutch ophthalmologist, Petrus Johannes Waardenburg who first described it in 1951.  It has since been subdivided into several types all of which have some features in common.

Clinical Correlations: 

Features in common in types 1 through 4 include: patches of skin and hair that have less pigment, irises that may be colored differently, and a congenital hearing loss.  Hearing may be normal in some patients while sometimes deafness occurs in only one ear.  Hearing loss is the most significant clinical problem and is usually congenital and sometimes profound.  Some types and maybe all have pigmentary changes in the retina.  Areas of the iris that do not pigment normally are described as having a brilliant blue color. The root of the nose is often prominent and broad, and the eyebrows can be bushy with hair growing between them (synophrys).

Most patients with the Waardenburg syndrome have no systemic disease other than the hearing loss.  Certain types, however, may have some limb and digit malformations with fused fingers and mild underdevelopment of arms and legs.  Another type (4) is associated with an abnormality in the colon called Hirschsprung disease which results in dilation of the colon and improper emptying.  These types are rare, however.


Most types of Waardenburg syndrome are inherited in an autosomal dominant pattern in which the disorder is passed directly from parent to child in a vertical pattern.  An affected parent in this case can expect that the syndrome will appear in half of his/her children.  However, kindreds have been reported in which the pattern is more consistent with autosomal recessive inheritance in which case the disorder appears in sibs born to normal parents.  In this case, the parents are often related.

Diagnosis and Prognosis: 

In most cases no treatment is required.  Fused fingers can sometimes be separated, deafness may be treated with hearing aids, and colon malfunction can be surgically treated.  Lifespan is normal.

Additional Information
Autosomal dominant
Autosomal recessive