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

: Van der Woude syndrome is the most generic form of syndromic orofacial cleft, present in approximately 2% of all cleft patients. The lower lip pits with or without cleft lip and/or palate is typical of this syndrome. Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or fasciogenito-popliteal syndrome, was first described by Trelat in 1869, the incidence is approximately 1 in 300,000 live births. The term PPS was coined by Gorlin et al in 1968 based on the most unusual anomaly, the popliteal pterygium. Popliteal pterygium syndrome shares features with van der Woude syndrome but, in addition, is characterized by genital anomalies, syndactyly of fingers and toes, and toenail dysplasia. In some patients, oral or eyelid synechiae are present. Van der Woude syndrome and PPS are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. OBJECTIVE:: To report the familial nature of the disease in the mother and son, and to summarize the clinical characteristics, treatment, and outcomes in both patients.

Van der Woude and Popliteal Pterygium Syndromes

Bennun¹,

Stefano²,

Moggi³

2018

Median Cleft of the Lower Lip and Mandible: Clinical Experience and Surgical Treatment

Lou

Wang

Cai

et al. 2019

Median cleft of lower lip and mandible is a rare congenital craniofacial malformation and has been described as isolated clinical reports. Fewer than 100 cases have been reported in the world literature so far, and the first case was reported by French scholar Monroe in 1819. The authors report a patient with median complete cleft of the lower lip and mandible which we made a special repair surgery for him, surgical effect satisfied with the restoration of appearance and function ideal. Therefore, the appropriate period and method of surgical management are very important.

Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene

Ural

Bilgen

Çakmaklı³

et al. 2019

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. 1,2 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. 3 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. 4 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. 5 Herein, the authors report a novel frameshift mutation in IRF6 gene which may contribute to better understanding the genetic aspect of VWS.