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
In the Vinony graph
Vinony's link graph records 74 inbound references to CHIME syndrome, and connects out to palmoplantar keratosis, epidermolysis bullosa simplex and pachyonychia congenita.
It is catalogued under topics including Autosomal recessive disorders, Genetic disorders with OMIM but no gene and Genodermatoses.
Vinony links it to 6 Wikipedia language editions.
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