Abstract
Van der Woude syndrome or lip pits syndrome is a rare genetic autosomal dominant affection that represents the first cause of syndromic cleft lip and palate. Lower lip pits associated or not with cleft lip or palate is characteristic in this syndrome. The treatment of lip pits is surgical and can be very challenging since aesthetic good results can be hard to achieve We report a familial case of Van der Woude syndrome with lip pits as the only manifestation.
Highlights
INTRODUCTIONVan Der woude syndrome is an inherited autosomal dominant syndrome [3] due to a mutation in chromosome band 1q32, more recently 1p34 [1], [4] in the gene encoding IRF6 (interferon regulator factor 6) [3], [5], [7], [9], lip pits on the vermilion of the lower lip is one of the manifestations of this syndrome, and can be isolated
Van Der woude syndrome is an inherited autosomal dominant syndrome [3] due to a mutation in chromosome band 1q32, more recently 1p34 [1], [4] in the gene encoding IRF6 [3], [5], [7], [9], lip pits on the vermilion of the lower lip is one of the manifestations of this syndrome, and can be isolated.same condition at the age of 17
Differential diagnosis can be made with popliteal Pterygium syndrome because of genetic proximity between the two syndromes [6]-[8] Pterygium syndrome can manifest with popliteal pterygia, genital abnormalities, and syndactyly associated to lower lip pits [8]
Summary
Van Der woude syndrome is an inherited autosomal dominant syndrome [3] due to a mutation in chromosome band 1q32, more recently 1p34 [1], [4] in the gene encoding IRF6 (interferon regulator factor 6) [3], [5], [7], [9], lip pits on the vermilion of the lower lip is one of the manifestations of this syndrome, and can be isolated.
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