Friedreich’s Ataxia: a slowly progressive disorder of the nervous system and muscles and results in inability to coordinate voluntary muscle movements (ataxia). It affects upper and lower limbs, and the head and neck. There is also a particular loss of the sensations of touch and pressure in the arms and legs. It does not affect mental capacity.
Heart disease, sometimes in forms severe enough to be fatal, is one of the more common and threatening of these conditions. Friedreich’s Ataxia patients also commonly have palpitations and dyspnea (shortness of breath), diabetes mellitus, characterised by abnormally high blood and urinary sugar levels, weakness in legs, unsteadiness in standing, and difficulties in walking and over-or underextend the leg when it is brought forward in walking, and feet may be lifted higher than necessary and brought down too hard.
Treacher Collins syndrome: a genetic, craniofacial birth defect that is characterized by a range of distinctive facial anomalies. The main characteristics of TCS are downward slanting eyes, small lower jaw, and malformed or missing ears. These abnomalities can cause hearing, breathing, and eating problems. About one in ten thousand babies are born with it. A person with Treacher Collins syndrome has a 50% chance of passing it onto their children. In my family, my grandfather passed it down to my mother who passed it down to me.
Cytomegalovirus (CMV): Children typically become infected with the virus in early childhood. Infants can develop hearing, vision, neurologic, and developmental problems over time. In a few cases, there are symptoms at birth, which can include premature delivery, being small for their age, jaundice, enlarged liver and spleen, microcephaly (small head), seizures, rash, and feeding difficulties. These infants are also at high risk for developing hearing, vision, neurologic, and developmental problems.
Meningitis: The first symptoms of meningitis may surface several days after a child has had a cold and runny nose, diarrhoea and vomiting, or other signs of a bacterial or viral infection. Some of the more common symptoms of meningitis include fever, lethargy (decreased consciousness), or irritability. Older children may complain of a headache, photophobia (eye sensitivity to light), and a stiff neck, which is often noted by the doctor during a physical exam. Meningitis also can lead to skin rashes. Seizures occasionally accompany meningitis as well. New-borns and infants with meningitis may lack the classical signs described above and simply be extremely irritable or lethargic. They may display something called paradoxical irritability – when picking up and rocking a child makes the child more distressed. This can be a sign of irritated meninges. Other symptoms of meningitis in infants can include: jaundice (a yellowish tint to the skin), a stiffness of the body and neck (neck rigidity), a mild fever, a lower-than-normal temperature, poor feeding, a weak suck, and a high-pitched cry. Parents may also notice bulging fontanelles on their baby’s head. (Fontanelles are the soft spot at the top/front of the baby’s skull, where the bones of the skull join and are still open at that age.)
The Usher syndromes (USH) are a large group of inherited disorders which combine simultaneously both the hearing impairment and progressive loss of vision. Type 1 (USH1) is characterized by a congenital (present at birth), severe to profound and preverbal deafness, absent vestibular deterioration (balance) function and early onset of an RP-like retinal deterioration (typically by age 5 or 6 years and almost always before age 10 years.) Type II (USH2) has a milder (post-verbal) hearing loss, apparently present from birth, and a later onset (or detection) of an RP-like retinal degeneration (typically between ages 10-20 years). Balance functions are normal and stable, but the hearing impairment deteriorates very slowly.
- Coloboma of the eye
- Heart defect
- Atresia of the Choanae
- Retardation of growth and/or development
- Genital hypoplasia
- Ear malformations
This is an eye deformity where part of the eye has failed to develop properly and is missing. There is a notch-like defect (commonly described as a ‘keyhole’) in any part of the eye. It is present at birth and is non-progressive. Coloboma of the iris (at the front of the eye) may limit the person’s ability to adjust to bright light, as the pupil is often deformed; coloboma of the retina (at the back of the eye) will create a blank area in the person’s visual field. Sometimes the eye may be small (microphthalmia) and in rare cases missing altogether (anophthalmia).
2. Choanal atresia
This is a blockage of the passages at the back of the nose. The blockage may be on one or both sides, and may be formed of a membrane of skin or bone. Again, surgery is often necessary immediately after birth to open these passages.
3. Characteristic ear anomalies
A person’s hearing can be affected. The external ear may be large, small or of an unusual cup shape. The middle ear may have bone malformations or chronic glue ear infection. Also, the inner ear can be affected, resulting in a permanent hearing loss. Hearing loss in people with CHARGE can be mixed and may be a combination of:
- a conductive loss in the middle-ear
- a sensori-neural loss because of damage to the cochlea
- problems processing auditory information because of a missing or underdeveloped auditory nerve.
It is also possible that the semi-circular canals in the ear will be malformed or absent (in the inner ear) which means that a child’s balance will be affected.
4. Cranial nerve dysfunction (facial palsy, vestibular dysfunction and swallowing difficulties) Cranial nerve problems are thought to be very common in children with CHARGE. In particular, problems with:
- the first cranial nerve which leads to a loss of the sense of smell. Although not an acute medical problem this may affect feeding, and may close off one more sense channel to a child who is already missing out on a lot of other sensory information.
- the seventh cranial nerve which causes facial palsy – a type of paralysis that can leave the face looking flat and expressionless, or drooping on one side.
- the eighth cranial nerve which causes sensori-neural hearing loss, and balance problems
- the ninth and tenth cranial nerves which cause swallowing problems. Children with facial palsy are more likely to have structural differences in the region of the larynx and pharynx in the throat.
This may lead to swallowing problems and aspiration.
a) Heart defects
Heart defects may be of various kinds – from life threatening to minor. Sometimes these problems can resolve themselves over time, but often emergency surgery is needed very soon after a child is born.
b) Cleft lip and palate
It is common for children with CHARGE to have a cleft lip and palate (Orofacial cleft).
This may make it harder to diagnose atresia of the choanae (a blockage of the passages at the back of the nose) if it is present. Surgery for a cleft lip may be required to repair severe clefts. Children with a cleft palate may also have problems with ear infections, feeding, and speech even after surgical corrections.
c) Genital differences
The incomplete or under-development of the external genitals, is very common in boys. Common problems are undescended testicles and/or small penis. Some girls with CHARGE have small labia minora (inner vaginal lips). Both males and females with CHARGE often experience hormonal problems. Evidence suggests that both sexes will experience difficulties with puberty, boys more so than girls. Failure to adequately replace sex hormones in puberty may lead to brittle bones (osteoporosis) in adult life.
d) Growth deficiency and developmental delay
This means that the child grows and develops more slowly than expected. There are many factors that can lead to a child growing more slowly – including severe feeding difficulties, breathing problems, chest infections and multiple surgical procedures with repeated and prolonged hospitalisation. Most of the people identified as having CHARGE are short (below the third percentile). It is now recognised that many young people with CHARGE will not go through puberty without the support of hormone treatment. Developmental delay means that a child needs more time to reach milestones such as sitting and standing and developing speech.
e) Facial Features
Facial asymmetry (the two sides of the face being different) may be present, even in the absence of facial palsy. Other characteristic facial features can include a square face with a broad prominent forehead, ptosis (droopy eyelids), a flat mid-face and small chin.
f) Upper body hypotonia. Low muscle tone or very floppy muscles in the upper body.
The sub group of features included: Facial paralysis or palsy, CHARGE facial features, central nervous system disorders, swallowing abnormalities, cleft lip and/or palate, urinary tract malformations, Tracheo – oesophageal fistula.
Waardenburg syndrome is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. One commonly observed characteristic is two differently colored eyes. One eye is usually brown and the other blue. Other individuals may have unusually brilliant blue eyes. People with WS may also have distinctive hair coloring, such as a patch of white hair or premature gray hair as early as age 12. Other possible physical features include a wide space between the inner corners of eyes called a broad nasal root. In addition persons with WS may have low frontal hairline and their eyebrows may connect. On rare occasions, WS has been associated with other conditions that are present at birth, such as intestinal disorders, elevation of the shoulder blade, and disorders of the spine. A facial abnormality, known as cleft lip and/or palate, also has been associated with WS.
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid gland to malfunction.
In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. In other cases, hearing loss does not develop until later in infancy or early childhood.
Other abnormalities of the inner ear are also common in Pendred syndrome. Some affected individuals have problems with balance caused by dysfunction of the part of the inner ear that helps maintain the body’s balance and orientation (the vestibular system). Additionally, a structure called the vestibular aqueduct is unusually large in people with Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the brain cavity. An enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome, but it is not the cause of hearing loss in people with this condition.
Enlarged vestibular Aqueducts (EVAS)
Research suggests that most children with enlarged vestibular aqueducts (EVA) will develop some amount of hearing loss. Scientists also are finding that 5 to 15 percent of children with sensorineural hearing loss (hearing loss caused by damage to sensory cells inside the cochlea) have EVA. However, scientists do not think that EVA causes the hearing loss, but that both are caused by the same underlying defect. EVA can be an important clue pointing to what is actually causing the hearing loss.
Most people with Alport’s Syndrome develop kidney failure in early adult life – most commonly in their twenties or thirties. Some (particularly women) only get the disease in later life. Before kidney function deteriorates, there may be blood and protein in the urine, and high blood pressure may develop. Women may never get much more than these changes, but some of them go on to get kidney failure over decades.
Deafness: Deafness develops at round about the same time as kidney’s deteriorate in most patients, although some people don’t get this.
Eyes: Harmless changes may be seen at the back of the eye using special tests. Some patients have lenticonus, an unusual deformity of the lens of the eye, but this is usually a late development.
Mild to severe bilateral Hearing Loss usually affecting the high frequencies
The Age onset of the Hearing Loss is usually before adolescence (teenage years)
Cleidocranial dysostosis is a disorder involving the abnormal development of bones in the skull and collar (clavicle) area. The condition is passed down through families (inherited).
Causes, incidence, and risk factors
Cleidocranial dysostosis is caused by an abnormal gene. It is passed down through families as an autosomal dominant trait. That means you only need to get the abnormal gene from one parent in order for you to inherit the disease.
Cleidocranial dysostosis is a congenital condition, which means it is present from before birth. The condition affects girls and boys equally.
Patients with cleidocranial dysostosis have a jaw and brow area that sticks out. The middle of their nose (nasal bridge) is wide.
The collar bones may be missing or abnormally developed. This pushes the shoulders together in front of the body.
Primary teeth do not fall out at the expected time. Adult teeth may develop later than normal, and an extra set of adult teeth grow in. This causes the normal teeth to become crooked.
The condition does not affect one’s intelligence.
Other symptoms can include
- Ability to touch shoulders together in front of body
- Delayed closure of fontanelles (“soft spots”)
- Prominent forehead (frontal bossing)
- Short forearms
- Short fingers
Skeletal disorder due to retarded ossification of membranes and bones: absence and irregular ossification of bones
Occasional progressive deafness (conductive / sensorineural) due to retarded bone ossification
Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies born
The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead healthy lives.
Turner syndrome (TS) is a chromosome abnormality affecting only females, caused by the complete or partial deletion of the X chromosome. The incidence of TS is approximately 1:2000 live female births.
Physical features & clinical characteristics
The term ‘syndrome’ is used to describe a collection or combination of symptoms which result from a single cause, it does not necessarily mean that all are present in the person who has a syndrome. There are number of physical features and clinical characteristics which may or may not be present in the girl/woman with Turner syndrome. The gives some of the possible features of TS:
- Lymphoedema of hands and feet [puffy hands and feet]
- Broad chest and widely spaced nipples
- Droopy eyelids
- Low hairline
- Low-set ears
- Spoon shaped, or small, or hyperconvex nails
- Short fourth toe and short fingers
- Web neck
- High arch palate [which can sometimes lead to feeding problems in babies with TS]
- Short stature
- Cubitus Valgus [carrying angle of the arms where it is difficult to straighten the elbow]
- Otitis media [middle ear infections]
- Hearing problems
- Myopia [short sightedness]
- Pigmented naevi [moles]
- High blood pressure
- Kidney and urinary tract problems
- Coarctation [narrowing or constriction of the aorta]
- Thyroid problems
- Small lower jaw [can lead to orthodontic problems]
- Osteoporosis [due to lack of oestrogen, a result of ovarian failure]
- Diabetes mellitus
- Behavioural problems
- Learning difficulties/spatial awareness problems [not mental retardation]