Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

Epicanthus

A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.


Total: 1

                       


(per page)
PMID (PMCID)
3184142
 FEMALE Infant
Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.
Motegi T, Nakamura K, Terakawa T, Oohira A, Minoda K, Kishi K, Yanagawa Y, Hayakawa H.
J Med Genet. 1988;25(9):628-30.
Deletion mapping indicates that psychomotor retardation, coloboma, prominent forehead, epicanthus, broad based nose, and broad, thin upper lip are associated with monosomy 4q26, and that gene(s) associated with Rieger syndrome can be excluded from the 4q26 segment.