Symptoms of genetic disorders

During childbirth, transmission of genes may be unbalanced in nature or in counts. Chromosomes transferred in the cases may be more than 21 or less than 21. If the chromosome material is more, it is called Down syndrome and in most of the cases it is not inherited. It may occur in random manner by the way of cell division during the early stage of fetus development.

Down syndrome

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This type of characteristics may happen when the chromosome of genes are more than 21. This exhibits intellectual disability, facial appearance abnormal and weak muscle tones. All the individuals are affected by the genetic disorders and they face cognitive delays. The intellectual disability may vary for the cases from mild to moderate. The children may be born with the variety of birth defects like heart defects and these are most common defects with the Down syndrome. Blocks in the intestine may also appear with the syndrome but this defect is less common.

The child may be born with Down syndrome with multiple defects from birth. These may include digestive abnormalities like the acidic stomach may flow in the reverse position into the food pipe. The patients with Down syndrome are mostly suffering from under active thyroids or hypothyroidism. The persons with Down syndrome mostly undergo with the high risk of ear problem or difficulties of eyes. Some children of Down syndrome may also develop the blood cancer or leukemia.

It is often reported that the children with Down syndrome show the slow development or delayed development than the normal child. Language and speech developments come later with Down syndrome children. If started also the rate of development is also slow. Sometimes, the speech of the affected children may be difficult to understand. Behavioral issues may create problems to others. The children with Down syndrome may show the stubbornness and may not exhibit the proper attention which is required at the present moments. The behavior may show compulsive attitude.

The people with Down syndrome may exhibit the gradual decrease of thinking power. Some children with Down syndrome may show the problem of autism. This may be signified as the spectrum disorders. This actually affects the social interaction with underlying problem of communication. As the people with Down syndrome grow, they may face the problem of brain disorder and they will face they gradual loss of memory, ability of functioning and judgment. The brain disorder may start from the age around 50 or 60.

Monogenetic disorders may include the following:

  • Sick cell anemia
  • Cystic fibrosis
  • Marfan syndrome
  • Huntington’s disease

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Single gene inheritance or mono genetic disorders may occur due to the mutation in single gene. The disorders occur in the DNA sequence. Known evidences of mono genetic disorders are more than 6,000. This type of genetic disorders may occur in 1 birth out of 200 births.

Some genetic disorders may reveal scaly skin, severe nature of eczema, weakness in muscles, curving of the spin, inability for riding bike, insomnia, hair loss, and frequent nature of urinary tract infections, sudden strange rash at hands and feet, traces of protein in urine, often feeling cold and so on.

Chromosome abnormalities

Chromosomes are located in the centre of each cell. It is composed of protein and DNA. It is the carrier of gene. If the abnormalities in number or structure happen, then genetic disorders occur. If person holds three pairs of 21 chromosomes, and then he is availed with Down syndrome. Other chromosomes abnormalities are:

  • (45, X0)
  • Cri du syndrome
  • (47,XXY)

Many diseases hold the genetic components and these may be proven as genetic disorders. Some syndrome is known, but some conditions and causes are still under researches.

Genetic disorders

  • Autism
  • Colon cancer
  • Cystic fibrosis
  • Crohn’s disease
  • Breast cancer
  • Down syndrome
  • Dercum disease
  • Fragile X syndrome
  • Hemophilia
  • Hemochromatosis
  • Noonan syndrome

There several types of genetic disorders. If the parents have any defects or abnormalities, the risk of getting some diseases in the children may be assessed. The chances of the risk of inheritance of genetic disorders may increase when the followings are visible:

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  • If another child has got genetic disorders.
  • Family history may indicate some genetic abnormalities.
  • If one parent has got the chromosomal disorders.
  • If the fetus shows some disorders during sonography.

Chromosomal abnormalities may be found in the baby due to inheritance from one parent, earlier family history. The most common abnormalities with chromosomes may be as follows:

  • Down syndrome-the cells may have the three sets of 21 chromosomes.
  • Turner syndrome-one of two chromosomes for sex is not transferred and leaving 45 chromosomes.

Genetic disorders may also happen due to multi factorial problems. This is not inherited or mono genetic mutations. It may be environmental effect or combined effect of the genes.