Child with cleft palate and cleft lip with anodontia due to:
a- Van der woude syndrome. ***
b- Treacher Collins syndrome.
c- Paget disease.
Van Der Woude syndrome (VDWS) is a genetic disorder. People with VDWS have cleft lipwith or without cleft palate, isolated cleft palate, pits or mucous cysts on the lower lip, andhypodontia. Affected individuals have normal intelligence.
Van der Woude syndrome (VWS) is characterized by small depressions (or fistulas) of the lower lip, of variable depth, associated or not with a cleft lip, labio-palatal or palatal.
a- Van der woude syndrome. ***
b- Treacher Collins syndrome.
c- Paget disease.
Van Der Woude syndrome (VDWS) is a genetic disorder. People with VDWS have cleft lipwith or without cleft palate, isolated cleft palate, pits or mucous cysts on the lower lip, andhypodontia. Affected individuals have normal intelligence.
Van der Woude syndrome (VWS) is characterized by small depressions (or fistulas) of the lower lip, of variable depth, associated or not with a cleft lip, labio-palatal or palatal.
This is the most common syndromes with orofacial cleft: its prevalence in the general population is about 1 case for 60 000. A hypodontia can be associated with VWS.
The clinical picture can be very variable, even within a family, with all possible combinations, but the labial depressions are present in 88% of cases. This syndrome is transmitted in the autosomal dominant mode, with a high penetrance (80 to 97%).
Mutations of the IRF6 gene (locus 1q32-q41) have recently been implicated in VWS. More than 70 mutations have been reported, affecting the functioning of the IRF6 transcription factor (interferon regulatory factor 6).
The differential diagnoses are the facio-genito-poplital (popliteal pterygium syndrome) and orofaciodigital syndromes, in which we sometimes find the paramedian labial wells, yet very suggestive of the Van der Woude syndrome.
The treatment of VWS malformations mainly concerns the repair of the orofacial cleft.
Lip fistulas are usually asymptomatic but surgical excision may be recommended for aesthetic reasons, or to reduce excessive salivation.
