Indian Journal of Ophthalmology

: 1974  |  Volume : 22  |  Issue : 3  |  Page : 24--26

Waardenberg syndrome

S Sujatha, A Thomas 
 Schell Eye Hospital, Christian Medical College C. M. C. Vellore-632001, India

Correspondence Address:
S Sujatha
Schell Eye Hospital, Christian Medical College C. M. C. Vellore-632001

How to cite this article:
Sujatha S, Thomas A. Waardenberg syndrome.Indian J Ophthalmol 1974;22:24-26

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Sujatha S, Thomas A. Waardenberg syndrome. Indian J Ophthalmol [serial online] 1974 [cited 2021 Jan 24 ];22:24-26
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Full Text

Waardenberg' described a syndrome which is charcterized by the following features : (1) white forelock (2) congenital deafness (3) lateral displacement of medial canthi and lacrimal puncta (4) broad nasal root (5) con­fluence of the eye brows with hypertrichosis of the medial ends and (6) heterochromia iridis. The hearing loss may be so slight that it may remain undetected without an audiogram. Partial albinism is also reported along with this syndrome in the literature. [1] The syndrome is transmitted by autosomal dominant inheri­tance. It is thought to be a variation of first arch syndrome which affects the embryo during 8-10 weeks of gestation. The present case has almost all the features of original Waardenherg syndrome and in addition had a small mucocele of the lacrimal sac on the left side, alopacia and poliosis.

 Case Report

A seven year old male boy attended our outpatient clinic with the complaints of pain and swelling around the left medial canthus of one month duration. On examination his visual acuity was 6/9 in each eye. There was a white forelock [Figure 1] and a big round patch of alopacia on the back of head just above the occipital region [Figure 2]. There was poliosis of both eyes and broad nasal root. The inter (medial) canthal distance was 38 mm. Palpebral aperture measurements were, horizontal 25 mms and vertical 9 mms. There was a firm swelling on the left side near the medial canthus, on pressing which pus regurgitated through the lacri­mal puncta. The puncta were normally placed. Corneal diameter was 10 mm in both meridia. There was heterochromia iridis [Figure 3] There was no evidence of iritis. Fundi were normal. There were depigmented white patches near the axillary and clavicle region [Figure 4]. Audiogram showed mild degree of hearing loss on the right side. A dacryocystorhinostomy was performed on the left side.


van der Hoeve [2] described more or less similar hereditary condition in which there was deformity of inner canthi, blepharo-phimosis, and deformity of lacrimal puncta. Waarden­berg [3] first described the syndrome as embryo­nic fixation syndrome in which the arrest of development occured during 8 to 10 weeks of embryonal development. He studied 161 affected individuals transmitted by dominent inheritance. Even though Waardenberg said that the syndrome was transmitted by autoso­mal inheritance we could not elicit a family history within two generations. This can be explained due to the incomplete penetrance of the gene and variant expressibility.

The commonest features found in most of the cases are lateral displacement of inner canthi (99%), broad nasal root (78%) and confluence of eye brows (45%).

Heterochromia of iris was seen in 25% of cases. It can be a sectorial defect or involving one eye only. Some cases showed variable amount of iris stromal defects.

Deaf mutism was found only in 20% of the cases. It may be unilateral and may be of mild degree to remain undetected.

The pigmentary disturbance is seen mainly as white forelock of hair (17%) and faint patches of depigmentation of the skin. A common sympathetic nervous system origin has been attributed to the pigmentary defects of iris, skin and hair.

Lacrimal sac involvement may not be rela­ted with the syndrome. Alopacia and poliosis seen in this case is not reported previously,


A case of Waardenberg syndrome present­ing as a white forelock, depigmented patches on the skin, broad nasal root, lateral displace­ment of medial canthi, heterochromia iridis and deafness is reported. Mucocele alopacia and poliosis were additional findings in this case.


1Campbell et al 1962 Arch. Dermat 1962 86 718.
2van der Hoeve 1916 cited from System of ophthalmology Duke Elder Vol. 3 1141.
3Waardenburg, P. J. 1951 Am. J. Human Gene­tics 3, 195.