CHARGE syndrome
Findings
No curated finding names CHARGE syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Definition from the Mondo Disease Ontology (MONDO:0008965), read 2026-09-29. CC BY 4.0.
Features
94 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.
- Abnormal cranial nerve morphologyHPOHP:0001291
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Abnormality of the inner earHPOHP:0000359
- Very frequent (80% to 99% of cases)
- AnosmiaHPOHP:0000458
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the earlobesHPOHP:0009906
- Very frequent (80% to 99% of cases)
- ColobomaHPOHP:0000589
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
Show the remaining 82
- Hypoplasia of the semicircular canalHPOHP:0011382
- Very frequent (80% to 99% of cases)
- Iris colobomaHPOHP:0000612
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
- Overfolded helixHPOHP:0000396
- Very frequent (80% to 99% of cases)
- Abnormal aortic valve morphologyHPOHP:0001646
- Frequent (30% to 79% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
Genes
3 genes
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.
- CHD7HGNC:20626
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2025
- Definitive · Broad Center for Mendelian Genomics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- CDK9HGNC:1780
- Limited · LiferaOmics · Autosomal recessive · 2026
- SEMA3EHGNC:10727
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
5 names
Resolves to: CHARGE syndrome
- Also called
- CHARGE associationcoloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndromecoloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies associationcoloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) associationHall-Hittner syndrome