X-Linked Ohdo Syndrome

Abstract This chapter provides pictures and clinical details of X-linked Ohdo Syndrome, an XLID with craniofacial findings (microcephaly, blepharophimosis, ptosis, short palpebral fissures, strabismus, epicanthus, triangular face, hypertelorism, sparse eyebrows, maxillary hypoplasia, thick alae nasi, small ears, small mouth, and micrognathia) that separate it clinically from other MED12-Related disorders. In addition to the craniofacial manifestations, individuals with X-linked Ohdo syndrome may have joint hypermobility, genital abnormalities, and overriding third toes. Cardiac malformations have occurred in several patients. With age, the facies tend to coarsen. Consistent growth abnormalities have not been described. Hypotonia and delayed development are the major neurological findings. The ocular findings in X-linked Ohdo syndrome are similar to those in autosomal recessive Ohdo syndrome.