Definition, Etiology, Etiology and Clinical Manifestations - Down Syndrome
Definition
Down syndrome is a disorder that can be known by looking at a fairly typical clinical manifestations. The disorder which affects the physical growth and mental retardation. Down Syndrome is a condition of mental retardation and physical development of children resulting from the development of chromosomal abnormalities. These chromosomes are formed as a result of the failure of a pair of chromosomes to separate from one another during a cleavage (Wikipedia). Down syndrome (Trisomy 21, mongolism) is a chromosomal abnormality that causes mental retardation and physical abnormalities (medicastore).
Children with Down syndrome are individuals who can be identified from the phenotype and having limited intelligence, which occurs due to excessive chromosome 21 (Soetjiningsih).
Etiology
The cause of Down syndrome is a chromosomal abnormality that is located on chromosome 21 and 15, with possibilities:
Non disjunction (formation of gametocytes)
1. Genetic
Genetic / Characteristically descent. This is proved by epidemiological studies in families with a history of Down syndrome would be an increased risk in offspring.
2. Radiation
According to Uchida (quoted from Puechel et al, in the child development book bouquet Soetjiningsih) stated that approximately 30% of mothers who give birth to a child with Down syndrome are mothers who have had radiation to the abdominal area. So it can happen gene mutations.
3. Infection
Infection is also associated with Down syndrome, but until now there has been no experts who were able to find the virus that causes Down's syndrome.
4. Autoimmune
Research Fial kow (quoted from Puechel et al, in the child development book bouquet Soetjiningsih) consistently get the difference of maternal antibodies that gave birth to a child with Down syndrome with normal children.
5. Maternal age
Maternal age above 35 years also resulted in down syndrome. This is due to a decrease in some hormones that play a role in the formation of the fetus, including hormones LH and FSH.
6. Father
Cytogenetic study found that 20-30% of cases the addition of 21 chromosomes comes from the father, but the correlation is not as high as with factors from the mother.
Clinical Manifestations
Weight in newborns with Down syndrome generally less than normal, an estimated 20% of cases with Down syndrome were born weighing less than 2500 grams. Children suffering from Down syndrome have a distinctive appearance:
Definition
Down syndrome is a disorder that can be known by looking at a fairly typical clinical manifestations. The disorder which affects the physical growth and mental retardation. Down Syndrome is a condition of mental retardation and physical development of children resulting from the development of chromosomal abnormalities. These chromosomes are formed as a result of the failure of a pair of chromosomes to separate from one another during a cleavage (Wikipedia). Down syndrome (Trisomy 21, mongolism) is a chromosomal abnormality that causes mental retardation and physical abnormalities (medicastore).
Children with Down syndrome are individuals who can be identified from the phenotype and having limited intelligence, which occurs due to excessive chromosome 21 (Soetjiningsih).
Etiology
The cause of Down syndrome is a chromosomal abnormality that is located on chromosome 21 and 15, with possibilities:
Non disjunction (formation of gametocytes)
1. Genetic
Genetic / Characteristically descent. This is proved by epidemiological studies in families with a history of Down syndrome would be an increased risk in offspring.
2. Radiation
According to Uchida (quoted from Puechel et al, in the child development book bouquet Soetjiningsih) stated that approximately 30% of mothers who give birth to a child with Down syndrome are mothers who have had radiation to the abdominal area. So it can happen gene mutations.
3. Infection
Infection is also associated with Down syndrome, but until now there has been no experts who were able to find the virus that causes Down's syndrome.
4. Autoimmune
Research Fial kow (quoted from Puechel et al, in the child development book bouquet Soetjiningsih) consistently get the difference of maternal antibodies that gave birth to a child with Down syndrome with normal children.
5. Maternal age
Maternal age above 35 years also resulted in down syndrome. This is due to a decrease in some hormones that play a role in the formation of the fetus, including hormones LH and FSH.
6. Father
Cytogenetic study found that 20-30% of cases the addition of 21 chromosomes comes from the father, but the correlation is not as high as with factors from the mother.
Clinical Manifestations
Weight in newborns with Down syndrome generally less than normal, an estimated 20% of cases with Down syndrome were born weighing less than 2500 grams. Children suffering from Down syndrome have a distinctive appearance:
- Asymmetrical skull shape or odd with the back of the head horizontally (the sagittal suture separately).
- Lesions of the iris (Brushfield spots), upward slanting eyes and eyelid folds (epicanthus) and pupillary distance wide.
- The head is smaller than normal. (Microcephaly) and abnormally shaped and short necks and huge.
- Abnormalities in newborns can be Congenital Heart Disease. This disorder is usually fatal in which babies can die quickly.
- Flat nose (hypoplastic) protruding tongue, thick and often outstretched and mouth always open.
- Short and broad hands with the fingers are short and often only have one hand on the palm line. There is only a single palm crease.
- Distance toe with a second finger width.
- The little finger consists of only two, and curved inward (Plantar Crease).
- The ears are small and located lower.
- Impaired growth and development (almost all people with Down syndrome never reach the height of an average adult).
- Mental retardation.
- Hiper flexibility.
- The shape of the palate that is not normal.
- Muscle weakness.