Uveal coloboma-cleft lip and palate-intellectual disability

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.

Also known as: uveal coloboma-cleft lip and palate-intellectual disability, COB1, coloboma, cleft lip/palate and intellectual disability syndrome, coloboma, cleft lip/palate and mental retardation syndrome, coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability, coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, coloboma-microphthalmos syndrome, coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

0 clinical trials for this condition and its sub-types, 0 tagged with Uveal coloboma-cleft lip and palate-intellectual disability itself.