Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Van der Woude syndrome is an unusual congenital malformation. It combines lower lip sinuses with a cleft lip and/or palate. The asymmetry appears more pronounced due to lower lip hypotonia and procheilia, which are more unaesthetic than the fistulae themselves. The malformation of the orbicularis oris muscle in its medial part induces the hypotonic aspect of the lower lip, which contrasts with the retracted scarred upper lip after the cleft has been repaired. It is also responsible for a real bilabial asymmetry. For many years, the most common surgical treatment was simple excision of the sinuses. Bad functional repair results prompted the authors to try another surgical procedure, the split-lip advancement technique as described by Mutaf. The authors report here on 8 operated children out of 25 patients followed up for Van der Woude syndrome. They evaluated the results according to the appearance of the lip when relaxed, its functional aspect, and the satisfaction of the parents or the child. Our results point to the importance of early surgical treatment, radical excision of dysplastic tissue and the repair of lip muscles to restore good lip functionality and satisfactory bilabial symmetry. The technique now used in our department has made it possible for us to achieve these goals.
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PMID:Lower lip repair in Van der Woude syndrome. 1277 39

Van der Woude syndrome (VWS) is a rare autosomal dominant disease, first reported in the literature in 1845 by Demarquay and subsequently thoroughly described in 1954 by Van der Woude. Van der Woude Syndrome is the most common form of syndromic orofacial clefting and individuals with this syndrome account for 2% of all cleft cases. Van der Woude syndrome clinically presents with congenital lip pits. These lip pits occur on paramedian portion of the vermillion border of the lip. In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients. Lip pits result due to notching of the lips at an early stage of development with fixation of tissues at the base of the notch or they may result from a failure of complete union of embryonic lateral sulci of lip. Single lip sinuses without any cleft syndrome are rare; lower lip fistulas in VWS are generally asymptomatic, and surgical management is usually accomplished because of aesthetic concerns. However, in some cases, patients may complain of watery drainage or hypotonia of the lower lip. Herein, the authors report a novel frameshift mutation in IRF6 gene which may contribute to better understanding the genetic aspect of VWS.
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PMID:Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. 3129 17