A to Z of syndromes

A-Z of syndromes: Waardenburg syndrome

Waardenburg syndrome is a genetic disorder that gives people a distinctive appearance 

Waardenburg syndrome is a rare genetic disorder characterised by deafness and unusual pigmentation of the skin, hair and eyes. It may also be associated with musculoskeletal defects and Hirschsprung’s disease. It was first described by a Dutch physician in the 1940s and its diagnostic criteria were defined in 1992.

Canadian video blogger Stef Sanjati who has Waardenburg syndrome. Picture: Getty Images

The most common mode of inheritance is by an autosomal dominant gene. This means that if one parent has the condition, there is a 50% chance that a child will be affected. Although it is usually passed on from a parent, gene mutations can also result in new cases.

The syndrome is not common; it is estimated to affect 1:40,000 people worldwide. It can account for up to 5% of all cases of congenital hearing loss. People who have the syndrome may have an unusual eye shape with dystopia canthorum (lateral displacement of the inner canthi), pale blue eyes, different coloured eyes, or two colours in one eye.

Distinctive appearance

Unusual characteristics are a white forelock and premature greying of the hair on the scalp. Leukoderma (pale patches on the skin) can be present from birth, the eyebrows may be connected (synophrys) and a broad or high nasal bridge may be present with underdeveloped nostrils.

There are four recognised types of Waardenburg syndrome, which are mainly distinguished by their physical characteristics. Types I and II  are the most common, and types III and IV are rarer.

Types I and II are similar and share the main features of the syndrome. People with type I invariably have eyes that seem to be widely spaced and hearing loss is more common in people with type II. Type III sometimes includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. People with type IV may also have Hirschsprung disease. The syndrome has been identified in all races and has no gender preference.

All newborn infants in the UK are offered a hearing test. This is an automated otoacoustic emission or an automated auditory brainstem response test. Infants who have been in a neonatal unit, or have parents with hearing impairments, are offered additional audiological assessments. 

Case study

Mario and Hannah are Dutch nationals who work in the UK. Hannah was diagnosed with Waardenburg syndrome as a child. Her family members have displayed a range of characteristics related to the syndrome, although none in living memory have had profound deafness. Hannah was offered pre-pregnancy genetic counselling as the condition carried a 50% risk of transmission and, although she had her DNA banked for future use or research, the presence of the condition and the risks to any children they might have did not influence the couple’s decision to start a family.

Hannah took a folic acid supplement before and during her pregnancy as there is a slight increased risk of neural tube defects with Waardenburg syndrome. When their son Yan was born he had the same blue eyes as his mother and hearing tests showed there was congenital sensorineural hearing loss in both ears. He was fitted with aids, however, as his speech development was slow he was given cochlear implants before his second birthday. Yan was then deemed to have full hearing and was shocked to hear the high frequency sounds for the first time. He became happier and more confident. He has speech and language therapy and is scheduled to attend an auditory oral school to help him cope with mainstream education.

Further reading

Doreen Crawford, nurse adviser and nurse consultant, Crawford McKenzie, and consultant editor Nursing Children and Young People

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