Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.

Van der Woude syndrome: Report of two cases with supplementary findings.

Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance and variable expressivity, occurring in about 1 of every 1,00,000-2,00,000 people. This syndrome is remarkably variable. It is characterized by orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, syngnathia, narrow high arched palate, ankyloglossia and hyper nasal voice. We report two interesting cases of VWS with characteristic orofacial features and an unusual additional finding of bilateral commissural pits. The purpose of this article is to facilitate understanding of etio-pathogenesis, clinical manifestations, role of genetic counseling and with special emphasis on commissural pits as an additional feature in VWS.

Van der woude syndrome with an unusual intraoral finding.

Orofacial manifestations of Van der Woude syndrome (VWS) include cleft lip or palate, lower lip pits, hypodontia, hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia. Extraoral manifestations include limb anomalies, popliteal webs, accessory nipples, congenital heart defects, and Hirschsprung disease. We report an interesting case of VWS with characteristic orofacial features along with an unusual additional finding of fusion of primary mandibular left lateral incisor and canine in a 7-year-old boy.

Van der woude syndrome - case report.

Genes contains the blue prints for human growth and development. Van der Woude syndrome is a developmental disorder characterized by lip pits on lower lip, cleft palate alone or with cleft lip in some cases & missing teeth. The features of VWS are discussed here with a case report. Bilateral lip pits with submucous cleft palate and bifid uvula were appreciated in the case.

A Case of Van der Woude Syndrome / 대한이비인후과학회지

Van der Woude syndrome is a rare developmental malformation characterized by pits in the lower lip, usually bilateral and located on either side of the midline, cleft lip with or without cleft palate, cleft uvula. This malformation have autosomal dominant inheritance with 80% to 100% penetrance and variable expressivity. Lip pits are also found in association with ankyloblepharon, popliteal pterygium, syndactyly, missing teeth etc. The treatment of lower lip fistulas is simple surgical excision. We experienced a patient with Van der Woude syndrome, who had bilateral lower lip pits with a submucous cleft palate. So we present Van der Woude syndrome and discuss the treatment with a review of literature.

A Case Report of Van der Woude Syndrome

Van der Woude syndrome is a rare developmental malformation characterized by pits in the lower lip, usually bilateral and located on either side of the midline. Van der Woude syndrome is accompanied with cleft lip with or without cleft palate, bifid uvula and hypodontia or missing incisors and premolars. It was first described by Van der Woude in 1954. It is inherited as an autosomal dominant syndrome with an estimated prevalence of 1 in 100,000~200,000 live births. The syndrome affects both sexes with variable expressivity and estimated penetrance close to 100%. The treatment of choice, but only for esthetic purposes is surgical excision. We experienced a case of newborn baby who had two pits in the lower lip of the midline and left side, with complete cleft lip and palate on the Rt. side. The midline sinus showed papilla like protrusion. The orifice was situated to the lip pit on the midline and the tract was about 4 mm in length. The lip pits were excised under general anesthesia with Millard II rotation advancement flap for cleft lip and primary rhinoplasty at 5 months. Histologic finding from excised lip pits showed multiple mucin-producing minor salivary glands with epithelial hyperplasia. And so we could diagnose Van der Woude syndrome. There was no reccurrence or developmental abnormality postoperatively after 1 year follow-up.