CHIME syndrome
Findings
No curated finding names CHIME syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
Definition from the Mondo Disease Ontology (MONDO:0010221), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
96 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachycephalyHPOHP:0000248
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- ClinodactylyHPOHP:0030084
- 2 of 2 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 8 of 8 reported patients
- IchthyosisHPOHP:0008064
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Large handsHPOHP:0001176
- 1 of 1 reported patient
Show the remaining 84
- Fine hairHPOHP:0002213
- 7 of 8 reported patients
- Occasional (5% to 29% of cases)
- Sparse hairHPOHP:0008070
- 7 of 8 reported patients
- Occasional (5% to 29% of cases)
- Broad 2nd toeHPOHP:0100040
- 6 of 7 reported patients
- Short philtrumHPOHP:0000322
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Low-set nipplesHPOHP:0002562
- 5 of 6 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIGLHGNC:8966
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
- cardiogenetic disease
- developmental anomaly of metabolic origin
- disorder of visual system
- ectodermal dysplasia syndrome
- inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- syndromic dyslipidemia
Other names
6 names
Resolves to: CHIME syndrome
- Also called
- coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndromecongenital disorder of glycosylation due to PIGL deficiencyneuroectodermal dysplasia, CHIME typeneuroectodermal syndrome, Zunich typePIGL-CDGZunich-Kaye syndrome