CHIME syndrome
Sign in to saveAlso known as Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME, COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME, Neuroectodermal dysplasia, CHIME type, PIGL-CDG, Zunich Neuroectodermal Syndrome, CHIME
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy
Research
18 papers- CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.American journal of medical genetics. Part A · 2025
- Severe congenital ichthyosiform dermatosis in CHIME syndrome successfully treated with ixekizumab.Pediatric dermatology · 2024
- Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.Journal of medical genetics · 1995
- Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome.American journal of medical genetics · 1997
- Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.Pediatric dermatology · 2022
via PubMed