- The skull is a bit smaller
- The skull is broad and short
- The backs of there heads are flatter than normal
- At the back of a newborns head they have a 'soft spot' and a baby with Down syndrome, that 'soft spot' it will take much longer to close and is will close much later than normal
- On the back of there neck it will often have extra skin
- There Shape of there face will often be round as a baby and will get oval shape as they get older
- Because there lack of development the face look flat
- There nose is smaller
- An the bridge of the nose is flatter
- They have rounder cheeks
- There mouth is smaller and the corners of there mouths are pointing downwards
- The usually stick out because of oral cavities
- There teeth a develop late and in a unusual order
- The teeth are unusually shaped and small
- The opening of the eye is slanted upwards and smaller then normal
- There are small white spots on the iris
- Folds of skin that cover the corners of the eye
- There ears are smaller
- They are slightly lower on the head
- They can be cupped or the upper part of the ear is folded over
- This then makes the ear a square shape
- The ear passage may be smaller so it is easily blocked and if not treated, this could lead to hearing loss
- There hands may be wide and short
- There fingers are shorter than normal
- The fifth finger may curve inwards and have one crease instead of two
- The also have a one deep palm crease instead of two
- There feet are wide
- There is a gap between the two toes
intellectual ability and physical ability
- delayed development
- learning disability
- short stature
- speech delay in a child
- difficulty thinking and understanding
- upslanting palpebral fissures
- atlantoaxial instability
- congenital heart disease
- Low muscle town
- Loose joints
- immune deficiency
- mouth breathing
- obstructive sleep apnea
- seborrheic dermatitis
- thyroid disease
- vision disorder
Genetics of Down Syndrome
How is it inherited?
Down Syndrome is not inherited in most cases, people with translocation Down Syndrome can inherit condition from an affected parent.
Is it dominant or recessive?
It can be both, it can be:
- Autosomal dominant
- Autosomal recessive
Is it a random mutation or chromosomal disorder?
It is in most cases a random mutation but it can also be a chromosomal disorder.
Location of the gene
Down Syndrome happens when the fetus is growing when the cells devide early in the process some of the body cells have two copies of chromosomal 21 and others have 3.
There are are two type of tests, there are:
- Screening tests
- Diagnostic tests
Types of tests:
- Blood tests: Blood tests measure the associated plasma protein-A and the pregnancy hormone human chorionic gonadotropin, if anything is not normal there may be something wrong with the baby
- Ultrasound: This tests how much fluid is collected in the neck tissue, this is used to to see a specific part of the babies neck and if there is more fluid then normal the there is something wrong with the baby
- Amniocentesis: A sample of amniotic fluid that surrounds the fetus is taken by needle and is put into the mothers uterus this is done after 15 weeks of pregnancy
- Chorionic villus sampling: cells are taken from the placenta and are used to test the fetal chromosomes this is done after 10 week of pregnancy
- Cordocentesis: Fetal blood is from the vein in a umbilical cord and is looked at for chromosomal defects
In 1910 people with Down syndrome would live to around 9 years old, but since then we have made a remarkable change and now 80% of people with Down syndrome will live to 55 or longer.
Life with Down Syndrome
Children with down Syndrome are some of the happiest and healthiest people when living in a loving home, these child are able to go to school whether being in a normal classroom or a special education program this often depends on how well his/her abilities are. Children with Down syndrome are able and are happy to read, write, do sport, art and music.
As adults people with Down syndrome may live with a community group home or with there families, where the often take care of there own needs. They can also work in jobs such as in a office, in a hotel, nursing homes, restaurants, and many other places that there are able to be employed in.
People with Down syndrome can marry and have children but women with this disorder have a high risk of miscarriage.
Aids and Treatment
- Physical exercise
- A special education
- Speech therapy
- Occupational therapy
- Physical therapy
- General practitioner
- Paediatric cardiologist
- Paediatric ophthalmologist
- Maternal-foetal medicine specialist
- Medical geneticist