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A birth defect is a mental or physical problem that results in an error in the way bone, brain, skin or tissue developed. A disorder may or may not be inherited, ie. passed from parent to child through genes and chromosomes.
Follow the links below to find information about birth defects, including cleft lip and palate, spina bifida, congenital heart defects and syndromes.
For individual disorders and syndromes, follow the links to the specific topic pages below.
Reviewed March 2009
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Related HealthInsite Topics
Chromosome Defects
HealthInsite Topic Page
Links to information about chromosome defects, including Down Syndrome and Fragile X Syndrome.
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Cleft Lip and Palate
HealthInsite Topic Page
Links to information on cleft lip and palate.
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Congenital Heart Defects
HealthInsite Topic Page
Links to information about congenital heart defects.
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Foetal Alcohol Syndrome
HealthInsite Topic Page
Links to information about foetal alcohol syndrome (FAS).
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Marfan Syndrome
HealthInsite Topic Page
Links to information on Marfan Syndrome.
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Spina Bifida
HealthInsite Topic Page
Links to information about spina bifida, which is a neural tube defect.
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Urogenital Defects
HealthInsite Topic Page
Links to information about birth defects that effect the urinary and genital systems.
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| Title: |
Developmental hip dysplasia explained
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| Publisher: |
Better Health Channel
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| Description: |
Developmental dysplasia of the hip (DDH) means the hip joint of a newborn baby is dislocated or prone to dislocation. DDH is more common in girls than boys. Treatment includes special harnesses (Pavlik harness), or operations and splints.
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| Date: |
May 2009
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| Title: |
Arterio-venous malformation of the brain
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| Publisher: |
Sydney Children's Hospital,The Children's Hospital at Westmead
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| Description: |
An arterio-venous malformation (AVM) is a condition that happens during growth in the womb. It occurs in the small capillaries between an artery and a vein. An explanation of what it is, symptoms that may be experienced, and treatment are provided.
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| Date: |
Apr 2009
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| Title: |
Congenital heart defects
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| Publisher: |
myDr
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| Description: |
While some congenital heart defects are serious, many produce no problems throughout life. Find out more.
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| Date: |
Apr 2009
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| Title: |
Club foot
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
What is commonly known as club foot happens to a small number of children. The correct name is congenital talipes equino varus (CTEV).
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| Date: |
Mar 2009
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| Title: |
Tongue-tie
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
There are widely differing views about tongue-tie, its effects on feeding (especially breastfeeding) and speech, and whether and how it should be treated.
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| Date: |
Mar 2009
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| Title: |
Breastfeeding - when babies won't feed
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
Some new babies take a while to learn how to attach to the breast and feed effectively. Others feed well at first, then become fussy. These problems can be very distressing; seek help if these ideas do not help.
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| Date: |
Mar 2009
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| Title: |
High versus low dose of initial thyroid hormone replacement for congenital hypothyroidism
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Congenital hypothyroidism is a condition that affects infants from birth and results from a missing or abnormally developed thyroid gland, abnormal production of thyroid hormones or a failure of the pituitary gland to stimulate thyroid hormone productio...
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| Date: |
Jan 2009
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| Title: |
Hearing problems in children
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| Publisher: |
Better Health Channel
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| Description: |
Hearing problems in children can be caused by factors including otitis media (infection of the middle ear), exposure to disease in utero such as rubella (German measles), genetic disorders, exposure to loud noise, and certain diseases including meningitis. Deafness may be temporary or permanent. Tinnitus (ringing in the ears) is a symptom of hearing damage. Treatment may include antibiotics, removal of wax or foreign object in the ear, hearing aids or speech therapy. A cochlear implant may be considered in the case of severe or profound hearing loss.
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| Date: |
Dec 2008
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| Title: |
Neural tube defects in Australia: an epidemiological report
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| Publisher: |
Australian Institute of Health and Welfare
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| Description: |
This report describes the prevalence and trends of neural tube defects (NTD) in Australia during the past decade. An estimated prevalence of NTD among pregnancies is presented based on the information from states that collect near complete data on NTD.
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| Date: |
Nov 2008
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| Title: |
Congenital torticollis
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
About 1 in 200 babies have torticollis, a shortening of a muscle in the neck causing their head to tilt to one side. The muscle affected is called the sterno-cleido-mastoid muscle (SCM),
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| Date: |
Oct 2008
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| Title: |
Genetic services in Victoria
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| Publisher: |
Better Health Channel
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| Description: |
Genetic services in Victoria cover diagnosis, screening and testing, counselling and ongoing management of individuals and families with particular birth defects and genetic disorders. Services available include maternal serum screening (MSS), screening for all newborn babies for phenylketonuria (PKU), hypothyroidism, cystic fibrosis and another 20 metabolic disorders, carrier screening for cystic fibrosis (CF) and thalassaemia screening.
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| Date: |
Sep 2008
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| Title: |
Tongue-tie
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| Publisher: |
Better Health Channel
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| Description: |
Tongue-tie is caused by a short frenum that restricts tongue movement. Many babies with tongue-tie breast and bottle feed successfully, but a tight tongue-tie can interfere with a baby's ability to breastfeed and, in some cases, bottle feed. The medical name for tongue-tie is ankyloglossia.
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| Date: |
Jul 2008
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| Title: |
Syringomyelia
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| Publisher: |
Better Health Channel
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| Description: |
Syringomyelia is the formation of a cyst in the spinal cord. As the cyst grows, it presses on the spinal cord and interferes with the transmission of nerve impulses. Causes include trauma, infection and congenital (from birth) brain defects. Without treatment, syringomyelia may result in paraplegia or quadriplegia. Treatment options include surgery.
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| Date: |
Jul 2008
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| Title: |
Developmental dysplasia of the hip
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
Developmental Dysplasia of the Hip (DDH) is the name used to describe a range of ways a baby's hip might not develop normally.
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| Date: |
Jul 2008
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| Title: |
Teeth - gapped teeth
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| Publisher: |
Better Health Channel
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| Description: |
Gapped front teeth in the upper jaw close by themselves in many cases. Fraenula are strings of tissue found underneath the tongue, inside the cheeks near the back molars, and under the top lip. The top lip fraenum can cause gapped teeth if it attaches too low on the gum. Whether or not an abnormal fraenum should be surgically removed is controversial.
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| Date: |
Jun 2008
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| Title: |
Amniocentesis
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| Publisher: |
Better Health Channel
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| Description: |
Amniocentesis can detect foetal abnormalities such as Down's syndrome, cystic fibrosis or spina bifida. A small amount of amniotic fluid is withdrawn from the sac in the uterus surrounding a foetus. Possible risks include infection, injury to the baby or miscarriage.
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| Date: |
Jun 2008
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| Title: |
Congenital anomalies in Australia 2002-2003
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| Publisher: |
Australian Institute of Health and Welfare
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| Description: |
This is the third report in a new revised series on congenital anomalies. This report provides national information on selected congenital anomalies from 2002-2003. Information on induced abortions with congenital anomalies is also presented for some jurisdictions.
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| Date: |
May 2008
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| Title: |
Noonan syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features. About one-third of affected children have mild intellectual disability. There is no cure, but medical management of possible complications is important.
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| Date: |
Apr 2008
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| Title: |
Maternal serum screening
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| Publisher: |
Better Health Channel
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| Description: |
The maternal serum screening test (MSS) is a blood test offered to pregnant women in the first or second trimester of pregnancy. The test helps to determine the risk of certain abnormalities that may affect the unborn child, including chromosomal abnormalities like Down syndrome and Edward syndrome, and neural tube defects such as spina bifida. The test does not detect whether a condition is definitely present.
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| Date: |
Apr 2008
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