CHARGE w88 mobile
By: C. J. Fields
What is CHARGE w88 mobile?
CHARGE w88 mobile is an identified (genetic) pattern of birth defects which occurs in about one in every 9 -10,000 births worldwide. CHARGE is a variegated w88 mobile, that is characterized by extensive medical and physical difficulties that differ from child to child. The majority of CHARGE w88 mobile births are not indicated by family history or any other similar conditions in the family. Babies with CHARGE w88 mobile are often born with life-threatening birth defects, including heart abnormalities and respiratory issues. “CHARGE” originally came from the first letter of some of the most common features observed in theses children:
- C=coloboma w88 mobile eye
- H=heart w88 mobile
- A=atresia w88 mobile choanae
- R=retardation of growth and development
- G=genital and urine w88 mobile
- E=w88 mobile abnormalities and/or hearing loss
w88 mobile and Diagnostic Criteria
A mutation of the CHD7 gene is the suspected cause of CHARGE w88 mobile. Gene testing is very expensive and isn't always reliable - only about 2/3 of people with CHARGE test positively for the CHD7 gene mutation. Therefore, the diagnosis of CHARGE w88 mobile is clinical, and is based on a variety of medical features seen in the child. Evaluations for CHARGE w88 mobile should be made by a geneticist that specializes in CHARGE. A diagnosis can be made using a combination of Major and Minor features. “Major features are characteristics that are quite common in CHARGE w88 mobile but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period.”
“Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes.” (The CHARGE w88 mobile Foundation, 2013)
| Feature | Includes | Frequency |
|---|---|---|
| Coloboma w88 mobile eye | Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (w88 mobile eye) or anophthalmos (missing eye): CAUSES VISION LOSS | 80% - 90% |
| Choanal w88 mobile or stenosis | The choanae are the passages that go from the back w88 mobile 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. | 50% - 60% |
| Cranial nerve abnormality | I - w88 mobile or decreased sense of smell, IX/X - Swallowing difficulties, aspiration, VII - Facial palsy (one side or both) | 90% - 100%, 70% - 90%, 40% |
| w88 mobile outer ear | Short, wide w88 mobile 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. | 50% |
| w88 mobile middle ear | Malformed bones w88 mobile middle ear (ossicles): CAUSES CONDUCTIVE w88 mobile | w88 mobile |
| w88 mobile inner ear | Malformed cochlea (Mondini defect); w88 mobile or absent semicircular canals: w88 mobile HEARING LOSS AND BALANCE PROBLEMS | 90% |
| Feature | Includes | Frequency |
|---|---|---|
| Heart w88 mobile | w88 mobile any type, but many are complex, such as tetralogy of Fallot | 75% |
| Cleft lip +/- w88 mobile | Cleft lip with or without w88 mobile, w88 mobile, submucous w88 mobile | 20% |
| TE fistula | Esophageal w88 mobile, Trancheo-esophageal fistula (TEF), H-shaped TEF | 15% - 20% |
| Kidney w88 mobile | w88 mobile kidney, missing kidney, misplaced kidney, reflux | 40% |
| Genital w88 mobile | Males: w88 mobile penis, undescended testes. Females: w88 mobile labia, w88 mobile or missing uterus. w88 mobile: lack of puberty w88 mobile hormone intervention | 50%, 25%, 90% |
| Growth deficiency | Growth hormone deficiency, w88 mobile short stature | 15%, 70% |
| Typical w88 mobile 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, w88 mobile mouth, occasional w88 mobile chin, larger chin with age. Facial asymmetry even without facial palsy. | Varies |
| Palm crease | Hockey-stick palmar crease | 50% |
| w88 mobile Behavior | Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals | 50% |
* None of the above features are necessary for a w88 mobile diagnosis. These features may vary from severe to absent in children with w88 mobile.
w88 mobile and Surgeries
Surgical treatment is necessary in children with CHARGE w88 mobile to correct congenital anomalies. Example surgical interventions include: Tracheostomy - which is done to stabilize the air passage; Myringotomy and tymphonostomy tubes which is done to treat otitis media; Gastrostomay and fundoplication in cases of feeding difficulty, and cochlear implantation. In addition to available surgeries, appropriate medical management of CHARGE w88 mobile is necessary.
Resources:
- Chargesyndrome.net (2013). CHARGE w88 mobile treatment.
- The Charge w88 mobile Foundation (2013). About CHARGE.