Cat-eye syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 1

                       


(per page)
PMID (PMCID)
6588751
 FEMALE Infant, Newborn
Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.
Rosenfeld W, Verma RS, Jhaveri RC.
Am J Med Genet. 1984;18(1):19-24.
An unusual supernumerary chromosome with a single satellite on the long arm was found in a child with manifestations of the cat-eye syndrome including apparently low-set and malformed ears, preauricular tags, micrognathia, and imperforate anus.