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CHIME syndrome
rareCHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
- Identifiers
- MONDO:0010221 OMIM:280000Orphanet:3474
- Causal genes
- PIGL
- Part of
- Cardiogenetic diseaseDevelopmental anomaly of metabolic originDisorder of visual systemEctodermal dysplasia syndromeInborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic dyslipidemia
- Also known as
- CHIME · coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome · coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome · coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · congenital disorder of glycosylation due to PIGL deficiency
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