Official websites use. Share sensitive information only on official, secure websites. Oral-facial-digital syndromes OFDS gather rare genetic disorders characterized by facial, oral and digital abnormalities associated with a wide range of additional features polycystic kidney disease, cerebral malformations and several others to delineate a growing list of OFD subtypes.
The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole exome sequencing WES.
Mutations were also detected in two genes previously implicated in OFDS. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. Oral-facial-digital OFD syndromes are rare genetic disorders characterized by the association of abnormalities of the face hypertelorism, low-set ears , oral cavity lingual hamartoma, abnormal frenulae, lobulated tongue and extremities brachydactyly, polydactyly.
However, the precise phenotypic description revealed new unclassified OFD subtypes, in particular with severe microcephaly 3 β 6. Classically, the inheritance pattern is autosomal recessive except for OFDI, which has dominant X-linked inheritance and is lethal in males. Until recently, the molecular bases of OFD syndromes were poorly known.
OFD1 encodes a protein located in the centrosome and basal body of primary cilia, suggesting that OFD syndromes are ciliopathies. Cilia, microtubule-based organelles projecting from the cytoplasmic membrane of the cell body, are divided into motile and non-motile or primary cilia.
