oral-facial-digital syndromes(English)

• represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes are found to be mutated in OFDS, and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function. Mutations in some of the genes can also lead to other types of ciliopathies with partially overlapping phenotypes, such as Joubert syndrome (JS) and Meckel syndrome (MKS). NGS approaches are expected to shed light on how many OFDS geneticists should consider while evaluating oral-facial-digital cases
• JS, MKS, NGS
• Congenital disorders, Genetics
• https://doi.org…3630-016-0034-4