Catalog

Cat-eye syndrome

No MMS code

Link to WHO Definition

Cat-eye syndrome – http://id.who.int/icd/entity/1813923633

Cat-eye syndrome is a chromosomal anomaly syndrome characterised by two major features: anal atresia and coloboma of the iris, from which the name of the syndrome derives. However, patients present with a very heterogeneous range of manifestations, including : preauricular skin tags or/and pits, cardiac defects, cleft palate and urinary tract or skeletal anomalies and moderate intellectual deficit.