Conditions / Syndrome
CHIME syndrome
info · Syndrome
A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.
Signs and symptoms
- Large hands
- Retinal coloboma
- Seizure
- Intellectual disability
- Conductive hearing impairment
- Brachycephaly
- Clinodactyly
- Wide nasal bridge
- Ichthyosis
- Long foot
Also known as: PIGL-CDG; Zunich neuroectodermal syndrome; Zunich-Kaye syndrome; coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; congenital disorder of glycosylation due to PIGL deficiency