CHARGE SYNDROME

http://www.chargesyndrome.org.uk/

The name CHARGE is named after 6 of the most common features of the condition. Not all features are present in every CHARGE patient.

C – Coloboma:

An eye defect. The eye fails to form properly and can result in “keyhole pupil” at front of eye or defects at the back of the eye. Sometimes causes a small eye, or absent eye. Can cause blindness, visual impairment, difficulty coping with bright light, retinal detachment.

H – Heart Defects:

A variety can occur, some need surgery.

A – Atresia of Choanae:

One or both nasal passages blocked or narrow. May need surgery.

R – Retardation of Growth Developmental Delay:

Growth hormone problems are rare, it is believed that retarded growth is caused by feeding difficulties and later lack of puberty. Developmental delay results from sensory impairments, chronic health problems, and balance problems.

G – Genital Anomalies:

Externally affected so only easily noticed in males. Problems are undescended testicles, small penis.

E – Ear Anomalies:

External, middle, and inner ear may be affected. Common problems are hearing loss, fusing of bones in middle ear, chronic fluid build-up in middle ear, narrow or missing ear canal, abnormally shaped external ears.

Other less common / significant features:

These can get better or worse over time, each one can affect the others so no two CHARGE patients are identical.

Abnormal Gait: Before they can walk, children with CHARGE often move by lying flat on their backs and scooting headfirst backwards or forwards. Once walking, people with CHARGE often have feet wide apart, knees slightly bent. Feet being planted firmly on the ground and the upper body and head slightly rolling from side to side.

Chromosome Abnormalities: Small number of CHARGE sufferers have chromosome abnormality.

Cleft Lip / Palate: Common problem. May require surgery. May cause ear infections, feeding problems, speech problems.

Corpus Callosum Agenesis: Rare neurological condition where the corpus callosum fails to form properly.

Cranial Nerve Anomalies: Common problem, often causes a loss of sense of smell, facial palsy, sensor-neural hearing loss, swallowing problems, and balance problems.

Delayed Puberty: Common in both genders. Most CHARGE sufferers get hormone treatment, but some reach puberty spontaneously.

Dental Anomalies: Late cutting of teeth. Teeth may be malformed and/or grow out of position. Possibly experience severe dental decay. Might be caused by high sugar content of CHARGE medicines.

DiGeorge Sequence: Congenital absence of thymus and parathyroid glands. Increased risk of infections, low blood calcium, delayed development.

Epilepsy: Rare, but growing evidence of epilepsy in CHARGE sufferers.

Facial Features: Asymmetry may be present even in absence of palsy. Also may have square face with broad forehead, droopy eyelids, small chin.

Facial Palsy: Type of paralysis that can leave face flat and expressionless (failing facial nerve). Usually just one side of the face.

Gastro-Oesophageal Reflux: Gastric contents of stomach come back into food pipe. Acidity can damage to oesophagus. Common problem, causes poor nutritional intake. May require medical or surgical management.

Hypocalcaemia: Inability of body to absorb calcium from food and drink. May affect digestion and nutrition.

Hypoglycaemia: Episodes of low blood sugar. Children may become irritable or drowsy, with sweating and pallor. In such cases food or drink is usually needed to increase blood sugar levels.

Hypotonia: Low muscle tone or very floppy muscles. These problems sometimes persist into adulthood. Multi-sensory impairments, balance problems, health problems, persistent and repeated hospitalisation and surgery, breathing difficulties, all play a part in this.

ImmuneSystem Deficiency: Increased risk of infection.

Imperforate Anus: Anus is closed over at birth and needs to be opened surgically.

Inguinal Hernia: Known as a “rupture”, it appears as a lump in the groin. Can result in obstruction or infection so preventive surgery is necessary.

Lack of Sense of Smell: Can result from dysfunction of first cranial nerve. May affect feeding and close of another sense channel to a child already missing other sensory information.

Larynx / Pharynx Problems: Children with facial palsy more likely to have structural anomalies in these areas. May cause swallowing problems and aspiration.

Micrognathia: A small lower jaw that may contribute to feeding difficulties.

Mondini Defect: Abnormal opening from semi-circular canal into middle ear. Contributes to balance problems. Can be surgically treated.

Nipple Anomalies: In rare cases extra nipples, or under-developed nipples, have been reported in people with CHARGE.

Oesophageal Atresia: The oesophagus or food pipe may not be connected to the stomach and may just have a blind ending. Or it can be abnormally narrow or floppy, leading to a range of feeding problems including reflux.

Omphalocele: This is a protrusion of variable amounts of the intestines, stomach and the liver through the abdominal wall and requires immediate surgery.

Otitis Media: Middle ear infections. Fluid accumulates in the middle ear behind the ear drum. If the fluid is infected the child will feel pain and there will be a temporary hearing loss. Often lasts into the teenage years and requires close supervision.

Pituitary Anomalies: The pituitary is a gland at the base of the brain which produces important hormones that help control growth and thyroid production. Does not function properly in some children with CHARGE, can result in deficiencies in growth hormone and in the sex hormones which induce puberty. If untreated these children will be short in stature and will not develop secondary sex characteristics. Hormone therapy has been used for these problems.

Renal Anomalies: May be problems with kidney development or function or even a missing kidney. Kidney reflux (i.e. reflux of urine from the bladder back into the ureter) is another feature which will not show upon ultrasound investigation and will need to be checked by having a Micturating Cystourethragram (MCUG) and then carefully monitored. If this is not detected for a considerable period of time (due to no obvious symptoms) irreparable damage to one or both kidneys can occur.

Scoliosis: Progressive curvature of the spine mainly due to low muscle tone. Also caused by balance problems and visual impairment. These lead to poor use of the body and poor posture. Reported to be very common in older children and adults with CHARGE and needs to be addressed as early as possible.

Semi-Circular Canal Anomalies: Balance problems due to damage in the inner ears are thought to be very common in people with CHARGE. Severe hypotonia, unusual movement patterns in infants, and characteristic gait in older people with CHARGE, may all indicate problems with the balance sense.

Sensory Defensiveness: Difficulties in coping with stimulation from environments that are quite normal and not at all over-stimulating seem to be a feature of many people with CHARGE. It is likely that people with CHARGE encounter difficulties with all their senses.

Skeletal Anomalies: A small number of people with CHARGE are born with skeletal problems such as hands and feet which are cleft and may need corrective surgery. They may also have a very low set thumb or an extra finger or toe.

Sleep Apnoea: Disturbed sleep patterns due to periods of arrested breathing are coming to be seen as a feature of infants with CHARGE.

Swallowing Abnormalities: Some problems with co-ordinating breathing and swallowing can be caused by damage to the ninth and tenth cranial nerves. Breathing difficulties, hypotonia, weak or malformed oesophagus and trachea, and sensory defensiveness, may also add to this.

Tear Ducts Missing or Narrow: The tear ducts may be unable to drain fluids from the eyes because of this problem, and very sticky eyes will result.

Temperature Dysregulation: May be unable to regulate body temperature consistently and effectively. May be caused by the hypothalamus (the part of the brain that controls body temperature) not be functioning correctly.

Tracheo-oesophageal Fistula: If a child is born with an opening between the trachea (windpipe) and oesophagus (food pipe) emergency surgery is needed, and resulting scarring may cause reflux.

Webbed Neck: Webbed neck and sloping shoulders are sometimes a symptom.

May also be problems with part of nervous system (autonomic) that regulates functions of internal organs. This may cause wide swings in heart rates, temperature, blood pressure, and pain tolerance.

Remember, that not ALL patients with CHARGE have ALL symptoms. These were symptoms collected from various individuals, and it is highly unlikely for one to have all above symptoms.