Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
  • Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Symptoms of Genetic Disorders

The following features are indicative of Genetic Disorders:
  • anemia
  • episodes of pain
  • painful swelling of hands and feet
  • frequent infections
  • delayed growth
  • vision problems
  • small head
  • short neck
  • protruding tongue
  • upward slanting eyes
  • unusually shaped or small ears
  • poor muscle tone
  • excessive flexibility
  • short height
  • change in bowel habits
  • blood in the stool
  • persistent abdominal discomfort
  • weakness or fatigue
  • unexplained weight loss
It is possible that Genetic Disorders shows no physical symptoms and still is present in a patient.

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Common Causes of Genetic Disorders

The following are the most common causes of Genetic Disorders:
  • DNA mutations
  • having an extra copy of chromosome 21
  • mosaic Down syndrome
  • translocation Down syndrome

Risk Factors for Genetic Disorders

The following factors may increase the likelihood of Genetic Disorders:
  • family history
  • advancing maternal age
  • having had one child with Down syndrome
  • being carriers of the genetic translocation for Down syndrome
  • older age
  • African-American race
  • personal history of colorectal cancer or polyps
  • inflammatory intestinal conditions
  • inherited syndromes
  • low-fiber and high-fat diet
  • sedentary lifestyle
  • being diabetic
  • obesity
  • heavy smoking
  • alcohol consumption
  • radiation therapy for cancer

Prevention of Genetic Disorders

No, it is not possible to prevent Genetic Disorders.
  • genetic mutations

Occurrence of Genetic Disorders

Number of Cases

The following are the number of Genetic Disorders cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Genetic Disorders can occur at any age.

Common Gender

Genetic Disorders can occur in any gender.

Lab Tests and Procedures for Diagnosis of Genetic Disorders

The following lab tests and procedures are used to detect Genetic Disorders:
  • Blood tests: To check defective form of hemoglobin
  • Screening tests: To diagnose sickle cell anemia and Down syndrome
  • Colonoscopy: To view entire colon and rectum to detect problems

Doctor for Diagnosis of Genetic Disorders

Patients should visit the following specialists if they have symptoms of Genetic Disorders:
  • Pediatrician
  • Hematologist
  • Pediatric cardiologist
  • Pediatric gastroenterologist
  • Pediatric endocrinologist
  • Developmental pediatrician
  • Pediatric neurologist
  • Pediatric ENT specialist
  • Pediatric ophthalmologist
  • Audiologist
  • Physical therapist
  • Speech pathologist
  • Occupational therapist
  • Genetic counselor

Complications of Genetic Disorders if untreated

Yes, Genetic Disorders causes complications if it is not treated. Below is the list of complications and problems that may arise if Genetic Disorders is left untreated:
  • heart defects
  • leukemia
  • infectious diseases
  • dementia
  • sleep apnea
  • obesity
  • stroke
  • acute chest syndrome
  • pulmonary hypertension
  • organ damage
  • blindness
  • leg ulcers
  • gallstones
  • priapism

Procedures for Treatment of Genetic Disorders

The following procedures are used to treat Genetic Disorders:
  • Blood transfusions: Increases the number of normal red blood cells in circulation, helping to relieve anemia
  • Bone marrow transplant: Replacing the bone marrow affected by sickle cell anemia with healthy bone marrow from a donor
  • Physical therapy: Helps in handling daily tasks
  • Occupational therapy: Helps you with daily living tasks
  • Speech therapy: Improve speech and aid swallowing
  • Surgery: To remove polyp completely
  • Chemotherapy: To kill cancer cells and lowers the risk of cancer recurrence
  • Radiation therapy: To destroy cancer cells that might remain after surgery

Self-care for Genetic Disorders

The following self-care actions or lifestyle changes may help in the treatment or management of Genetic Disorders:
  • Take folic acid supplements daily: Helps in making of new red blood cells
  • Drink plenty of water: Decreases the risk of a sickle cell crisis
  • Avoid temperature extremes: Exposure to extreme heat or cold can increase the risk of a sickle cell crisis
  • Exercise regularly: To stay healthy
  • Get genetic counselling: Helps in understanding your chances of having a child with Down syndrome
  • Avoid smoking: Lowers the risk of colon cancer
  • Maintain a healthy weight: Helps in preventing colon cancer

Alternative Medicine for Treatment of Genetic Disorders

The following alternate medicine and therapies are known to help in the treatment or management of Genetic Disorders:
  • Nutritional supplements: Helps in enhancing cognitive function
  • Massage therapy: Helps in enhancing cognitive function
  • Relaxation exercises: Helps in relieving distress

Patient Support for Treatment of Genetic Disorders

The following actions may help Genetic Disorders patients:
  • Finding someone to talk: Discussing your problems with someone gives you metal relief
  • Join support groups: Find the way of dealing with disease by talking to the individuals suffering from sickle cell anaemia
  • Exploring ways to cope with the pain: Helpful in dealing with pain
  • Expect a bright future: People with down syndrome can live with their families or independently
  • Keep your close relationships strong: Provides the practical support and helps in dealing with your cancer
  • Learn enough about genetic disorders: Makes you feel comfortable and helps in making treatment decision

Time for Treatment of Genetic Disorders

While time-period of treatment for each patient may vary, below is the typical time-period for Genetic Disorders to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Genetic Disorders.
Birth Defects
Brain Malformations
Celiac Disease
Cleft Lip and Palate
Cystic Fibrosis
Down Syndrome
Fragile X Syndrome
Genetic Brain Disorders
Genetic Counseling
Genetic Testing
Osteogenesis Imperfecta
Prader-Willi Syndrome
Rare Diseases
Sickle Cell Anemia

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