Care of individuals with syndromes affecting craniofacial and dental structures are mostly
treated by an interdisciplinary team from early childhood on. In addition to medical and …

Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate
and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) …

Background Polycystic liver disease (PLD) is an inherited disorder characterized by
numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease …

Background Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital
malformation of multifactorial etiology. Research has identified> 40 genome‐wide significant …

Orofacial clefts (OFCs) are common, affecting 1: 1000 live births. OFCs occur across a
phenotypic spectrum–including cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP) …

Background The development of the face occurs during the early days of intrauterine life by
the formation of facial processes from the first Pharyngeal arch. Derangement in these well …

Non-syndromic cleft lip with or without cleft palate (NSCLP) is the most common congenital
craniofacial malformation, and its harmful influence on affected individuals is apparent …

Background Hearing loss is one of the most prevalent disabilities worldwide, and has a
significant impact on quality of life. The adult-onset type of the condition is highly heritable …

Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context
of underlying syndromes or in isolation (nonsyndromic). The two common OFC phenotypes …

Objective Subjects with cleft lip and palate (CLP) present high prevalence of dental
agenesis. Among candidate genes for these phenotypes is IRF6. However, genetic studies …