Also Known As
uveal coloboma-cleft lip and palate-intellectual disabilityCOB1coloboma, cleft lip/palate and intellectual disability syndromecoloboma, cleft lip/palate and mental retardation syndromecoloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disabilitycoloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardationcoloboma-microphthalmos syndromecoloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palateuveal coloboma-cleft lip/palate-intellectual disability syndromeuveal coloboma-cleft lip/palate-mental retardation syndrome
Definition
Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.