The gene responsible for OFD type I syndrome was identified on the short arm of the X chromosome [13]. [ciliajournal.biomedcentral.com]

Most of the other forms of oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a causative gene in each cell have mutations. [ghr.nlm.nih.gov]

The presence of the MTS is intriguing and suggests a possible link with JS. His younger sister displayed a similar phenotype worsened by the presence of cardiac malformation leading to neonatal death [43]. [ciliajournal.biomedcentral.com]

Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). [ghr.nlm.nih.gov]

Case 1 was born to healthy consanguineous parents and displayed midline defects including hypertelorism, midline clefts and severe choanal stenosis, left hand postaxial polydactyly and eye abnormalities (right microphthalmia, left anophthalmia, bilateral [ciliajournal.biomedcentral.com]

Type II, Mohr syndrome[3] Type III, Sugarman syndrome Type IV, Baraitser-Burn syndrome[4] Type V, Thurston syndrome[5] Type VI, Varadi-Papp syndrome[6] Type VII, Whelan syndrome[7] Type VIII, Oral-facial-digital syndrome, Edwards type[8] (not to be confused [en.wikipedia.org]

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Siebert JR. The oral-facial-digital syndromes. [ghr.nlm.nih.gov]