Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions). See the specific linked sections in the Management Manual for Parents for additional information about features.
Major Features of CHARGE Syndrome
These are very common in CHARGE and relatively rare in other conditions.
| Feature | Includes | Frequency |
|---|---|---|
| Factsheet About Coloboma of the Eye | Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS Images of Coloboma of the Eye | 80%-90% |
| Factsheet about Choanal Atresia or Stenosis | The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous. Unilateral atresia or stenosis can be difficult to diagnose Images of Choanal Atresia or Stenosis | 50%-60% |
| Factsheet about Cranial Nerve Abnormalities Factsheet about Swallowing and Feeding | I – Missing or decreased sense of smell | 90-100% |
| IX/X – Swallowing difficulties, aspiration Image of Swallowing & Feeding | 70%-90% | |
| VII – Facial palsy (one side or both) Images of Facial Palsy | 40% | |
| Factsheet about CHARGE Outer Ear | Short, wide ear with little or no lobe, “snipped off” helix (outer fold), prominent antihelix (inner fold) which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric Images of CHARGE Ears | >50% |
| Factsheet About CHARGE Middle Ear | Malformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSS | Common |
| Factsheet About CHARGE Inner Ear | Malformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS Cochlea Diagram | 90-95% |
Minor Characteristics of CHARGE
Significant, but more difficult to diagnose or less specific to CHARGE
| Feature | Includes | Frequency |
|---|---|---|
| Factsheet About Heart Defects | Can be any type, but many are complex, such as tetralogy of Fallot | 75% |
| Cleft Lip +/- Cleft Palate | Cleft lip with or without cleft palate, cleft palate, submucous cleft palate Image of Repaired Cleft Lip | 20% |
| TE Fistula | Esophageal atresia, Trancheo-esophageal fistula (TEF), H-shaped TEF | 15-20% |
| Kidney Abnormalities | Small kidney, missing kidney, misplaced kidney, reflux | 40% |
| Genital Abnormalities | Males: small penis, undescended testes | 50% |
| Females: small labia, small or missing uterus | 25% | |
| Both: lack of puberty without hormone intervention | 90% | |
| Growth Deficiency | Growth hormone deficiency | 15% |
| Other short stature | 70% | |
| Typical CHARGE Face | Square face with broad prominent forehead, arched eyebrows, large eyes, occasional ptosis (droopy lids), prominent nasal bridge with square root, thick nostrils, prominent nasal columella (between the nostrils), flat midface, small mouth, occasional small chin, larger chin with age. Facial asymmetry even without facial palsy Images of Typical CHARGE Faces | |
| Palm crease | Hockey-stick palmar crease Image of Hockey-Stick Palmar Crease | 50% |
| CHARGE Behavior | Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals | 50% |
Other Features of CHARGE
Consistent with CHARGE, possibly medically significant, but less helpful in making a diagnosis
Every feature varies from severe to absent in different children. There is no one feature that must be present to make a diagnosis of CHARGE or is found in all children with CHARGE. Every person with CHARGE has a unique collection of features.
| Feature | Includes | Frequency |
|---|---|---|
| Chronic Ear Problems | Lots of infections, fluid in the ears, PE tubes until teens | 85% |
| Sloping Shoulders | Underdeveloped shoulder muscles, small or missing pectoral muscles, short neck Image of Sloping Shoulders | Common |
| Limb/Skeletal | Absent thumb, extra fingers, vertebral abnormalities | ? |
| Factsheet about Cranial Nerve Abnormalities | Hydrocephalus, seizures, abnormalities seen on MRI or CT | Occasional |
| Thymus or Parathyroid Abnormality | Small or missing thymus, decreased immune system | Rare |
| Omphalocele | Omphalocele or umbilical hernia | 15% |
| Nipple Anomalies | Extra, missing or misplaced nipples | Occasional |
| Low muscle tone Image of Hypotonia – Low Muscle Tone | 90% | |
| Scoliosis | Usually due to low muscle tone | Common |
