Gladwin A, Donnai D, Metcalfe K, Schrander-Stumpel C, Brueton L, Verloes A, Aylsworth A, Toriello H, Winter R, Dixon M
School of Biological Sciences and Department of Dental Medicine, University of Manchester, UK.
Hum Mol Genet. 1997 Jan;6(1):123-7. doi: 10.1093/hmg/6.1.123.
Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
