CHIME syndrome

CHIME syndrome, also known as Zunich-Kaye syndrome or Zunich neuroectodermal syndrome, is an extremely rare multisystem disorder whose name is an acronym for its cardinal features: Colobomas of the eye, Heart defects, Ichthyosiform dermatosis (a fish-scale-like skin condition), Mental retardation (intellectual disability), and Ear anomalies (including conductive hearing loss). The condition is caused by biallelic pathogenic variants in the PIGL gene, which encodes a protein involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis. This defect disrupts the proper anchoring of numerous proteins to cell surfaces, leading to the wide-ranging clinical manifestations observed. The syndrome affects multiple organ systems. Ocular involvement includes colobomas (gaps in eye structures such as the iris, retina, or optic nerve) that can impair vision. Congenital heart defects vary in type and severity. The skin manifestation is a distinctive ichthyosiform dermatosis that is typically present from birth or early infancy, characterized by migratory, erythematous, scaly patches. Affected individuals have intellectual disability that ranges from mild to severe, along with characteristic craniofacial features including a flat nasal bridge, broad nose, and ear anomalies that may include structural malformations and hearing loss. Additional features may include seizures, brachydactyly (short fingers), and renal anomalies. There is currently no cure or disease-specific treatment for CHIME syndrome. Management is supportive and multidisciplinary, involving ophthalmology for colobomas, cardiology for heart defects, dermatology for skin care, audiology for hearing loss, and developmental support services including speech therapy, occupational therapy, and special education to optimize developmental outcomes. Regular monitoring of all affected organ systems is recommended throughout life.

Common questions about CHIME syndrome