Cat eye syndrome

Also known as: Schmid–Fraccaro syndrome

Coloboma with anal atresia, caused by an extra marker chromosome.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Congenital malformation
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: CECR2

Etiology & mechanism

Tetrasomy of chromosome 22q11 from a supernumerary bisatellited chromosome.

Gene(s) involved (1)

CECR2

Symptoms & signs (6)

anal atresiadownslanting palpebral fissuresheart defectsiris colobomapreauricular tagsrenal anomalies

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