Genetic Disorders

Genetic Disorders

One or more alterations to the genetic code are the root cause of genetic disorders. Most genetic disorders affect only one in thousands, if not millions, of people. Hereditary disorders may be passed down from parents to offspring. New mutations or changes to the DNA could be to blame for defects in other genetic disorders. Heredity is composed of a person’s genes. They’re like a genetic inheritance that runs in families. The DNA they contain serves as a blueprint for creating proteins. Proteins are the cells’ main workhorses. They facilitate the transfer of molecules, the construction of structures, the degradation of toxins, and numerous other upkeep tasks.

Single Gene Disorder

It is called a “single gene disorder” when researchers have identified the disease’s origin to a single gene. In other words, it’s a Mendelian disorder. Rare genetic disorders typically only affect a single family member. This disease can be passed on with a single inherited copy of the mutated gene. Sickle cell anaemia, muscular dystrophy, and cystic fibrosis are all examples of single-gene disorders.

Chromosomal Abnormalities

Chromosomal abnormalities refer to a category of genetic disorders in which one or more chromosomes are missing or abnormal. The genetic material that holds the genes together is called a chromosome. Changes in the number of chromosomes, the structure of chromosomes, or the inheritance pattern can all lead to chromosomal abnormalities. Down syndrome, Turner syndrome, Williams syndrome, Klinefelter syndrome, and CRI-DU-CHAT syndrome are all examples of chromosomal disorders.

Multifactorial Disorders

Conditions that are the result of a combination of genetic and environmental factors are said to be multifactorial, or complex. Traits that are multifaceted and complex are often inherited in a way that is multifactorial or polygenic, with the effects of multiple genes acting together at different loci to produce a final result. Breast cancer, ovarian cancer, colon cancer, Alzheimer’s disease, hypothyroidism, heart disease, diabetes, osteoporosis, asthma, gout, and lupus are all examples of multifactorial diseases.


Anomalies of the ear

Eyes with an odd shape

Eye colour variation

Hair that is weak or balding

Excessive Skin

Flaky white hair

Big or little tongue

Disfigured teeth

An excessive number of teeth or too few

Impairment of joint mobility

Fingers and toes with webbing

Exceptionally tall or short

Abnormally dense facial and body hair

Distinctive or out-of-the-ordinary facial features that run in the family