Cranio-oro-digital syndrome (otopalatodigital syndrome; opd ii syndrome; facio-palato- osseous syndrome; fpo)  315

General: Sex-linked; can occur as a sporadic condition.

Ocular: Downward-slanting palpebral fissures (antimongoloid obliquity).

Clinical: Microcephaly; small mouth; midface hypoplasia; cleft palate; flexed, overlapping fingers with syndactyly of digits 3 and 4; syndactyly of toes 2 and 5; bifid uvula; slight deviation of the terminal phalanges of the third fingers; radial deviation of the terminal phalanx of the right fourth finger; short first toe and long second toe; short first metacarpal; extra bone in the capitate-hamate complex; small thorax; bowed limbs with absent fibula; mild frontal bossing; conductive hearing impairment; flat facies; broad nasal base; wavy irregular clavicles and ribs; widely spaced eyes; prominent forehead.

Brewster TG, et al. Otopalato-digital syndrome, type II: an X-linked skeletal dysplasia. Am J Med Genet 1985; 20: 249-254.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Preis S, et al. Oto-palato-digital syndrome type II in two unrelated boys. Clin Genet 1994; 45:154-l61.

Stoll C, Alembik Y. Oto-palato-digital syndrome type II. Genet Couns 1994; 5:61-66.