4 Most Common Genetic Disorders In Children

Written by Manjiri Kochrekar • 

Is the growth and development of your child not on par with children of her age? Do you observe any abnormalities in her physical or psychological development and are you worried about her condition? If you said yes, chances are, your little one suffers from a genetic disorder. Read our post here and learn all about genetic disorders in children and how they affect them.

What Is Genetic Disorder?

Genetic disorders characterize ailments that include certain kinds of birth defects, growth and developmental problems, chronic ailments, and sensory deficits due to gene abnormalities. It is rather important to seek medical assistance to diagnose and treat child genetic disorders effectively (1).

[ Read: Metabolic Disorders In Children ]

Causes Of Genetic Disorders In Children:

Even though defect in genes is a prominent cause of genetic disorders in children, here are some other causes of the disorders.

  • Inheritance i.e. the genetic disorder is present in either of the parents
  • Altered gene
  • Genetic mutation or alteration of genes
  • Chromosomal abnormalities (2)

Types Of Genetic Disorders In Children:

There are four kinds of genetic disorders namely, single gene disorders, mitochondrial disorders, chromosomal abnormalities, and multi-factorial disorders.

1. Single Gene Disorders:

In gene pairing, the child inherits one copy of each gene pair from the mother and other from the mother. However, a mutation or a gene alteration results in absence or modification of a particular gene. Some of the prominent single gene mutation or single gene disorders in children include:

  • Autosomal Recessive:

Sickle cell anaemia, cystic fibrosis, and phenylketonuria

  • Autosomal Dominant:

Familial hypercholesterolaemia and Huntington’s disease

  • X-linked Recessive:

Haemophilia, Duchenne muscular dystrophy

  • X-linked Dominant:

Rare kind of rickets popular as hypophosphataemia or vitamin D-resistant rickets (3).

[ Read: Growth Disorders In Children ]

2. Chromosomal Abnormalities:

Genes contribute towards the formation of deoxyribonucleic acid or DNA. DNA strands result in a structure that we call chromosomes. A chromosome disorder results due to change in the number or structure of chromosomes. The alteration in chromosome occurs soon after conception, inheritance, or during the formation of sperm or egg. Some of the chromosomal abnormalities include chromosomal mosaicism and uniparental disomy in children (4).

3. Mitochondrial Disorders:

Mitochondria stimulate the production of an energy chemical popular as adenosine triphosphate (ATP) in every cell. Genes in mitochondria and nucleus of cell instructs every cell for the production of enzymes that are quintessential for the ATP production. Alteration of genes can adversely affect the production of enzyme and ATP. Some of the prominent mitochondrial disorders in children are as follows:

  • Brain And Spinal Cord Disorders:

Deafness, seizures, intellectual disabilities, and vision problems.

  • Heart Problems:

Irregular heartbeat problems and cardiomyopathy

  • Musculoskeletal System:

Floppiness and poor muscle tone (5).

4. Multifactorial Disorders:

Multifactorial disorders result due to multiple genes or polygenic inheritance. Spina bifida and high blood pressure in kids are some of the examples of multi-factorial disorders (6).

Symptoms Of Genetic Disorders In Children:

The symptoms of genetic disorders differ from child to child. Some common genetic disorders in children include:

  • Unusually short or tall
  • Unusually shaped eyes
  • Sparse or brittle hair
  • Misshapen teeth
  • Stiff or loose joints
  • Missing or extra teeth
  • Ear abnormalities
  • Excessive hair on body
  • Stunted growth and development
  • Unusual birthmarks (7)

[ Read: Marfan Syndrome In Children ]

Treating Genetic Disorders In Children:

There is no specific cure for childhood genetic disorders. However, certain effective, special therapies and medical assistance can help children to cope with the deficient growth and lead life independently and happily. Treatments may vary according to the genetic disorder. Some of the recommended treatments include:

  • Speech therapy
  • Occupational therapy
  • Medication
  • Behavioral and educational interventions
  • Participating in social activities
  • Diet and lifestyle change
  • Surgery in extreme cases (8)

Did you witness any genetic disorder in children? What did you do to treat it effectively? Share your story with fellow moms here. Leave a comment below.

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