/CHIME syndrome

CHIME syndrome

Rare Disease

MONDO:0010221

Also Known As

CHIME syndromePIGL-CDGZunich-Kaye syndromecoloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndromecongenital disorder of glycosylation due to PIGL deficiencyneuroectodermal dysplasia, CHIME typeneuroectodermal syndrome, Zunich typeCHIMEZunich neuroectodermal syndromecoloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndromecoloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndromeglycosylphosphatidylinositol biosynthesis defect 5

Definition

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.