Cat's eye syndrome with cleft soft palate.
Cat's eye syndrome is a very rare disease with many congenital anomalies. Until the end of 1983, 35 cases had been reported, but only 5 cases were associated with cleft palate, and only 1 patient was operated on. A 4-year-old male child had coloboma of the iridochoroid, cleft soft palate, hypertelorism with an antimongoloid slant of the eyes, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome. The patient did not have anal atresia, preauricular skin tags, microphthalmia, depressed nasal bridge, or renal or skeletal anomalies. The operation was performed on his cleft soft palate when he was 2.5 years old.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications* / Q000235:genetics / Q000601:surgery; D003103:Coloboma / Q000150:complications* / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D013577:Syndrome; D009626:Terminology as Topic
D005819:Genetic Markers