Health - Conditions
By: - at September 4, 2013

Top 10 Most Common Genetic Disorders

No person is born with a choice of genes. Alterations in DNA can result from a mutation in a single gene, chromosome abnormalities, or multi-factorial disorders. When genetic disorders do occur, they are often rare, and affect one person among thousands of individuals.


The following list summarizes some of the more common disorders, from the rarest (#10) to the most common (#1).

10)  Jackson-Weiss Syndrome
Jackson-Weiss SyndromeThis syndrome is caused by a premature fusion of the skull bones, which leads to a deformity of the head and face. Jackson-Weiss Syndrome or JWS also causes mental retardation and crossed eyes. This disorder is a very rare one and therefore its occurrence has not been regularly noted. The syndrome, which is caused by a mutation in the FGFR2 gene, presents itself by such symptomatology as an irregularly shaped skull, abnormal placement of the eyes, a bulging forehead, and foot abnormalities. Anyone with the disorder generally lives a normal lifespan.

Adenosine Deaminase (ADA):
Adenosine Deaminase

9)  Severe Combined Immunodeficiency Disorder (SCID)
As its name suggests, this disorder affects immune system functioning. An SCID baby’s life expectancy is short, and whatever time he or she has left is spent, for the most part, in a “bubble" completely cut off from the world. This disorder is caused by the mutation of more than one gene and renders a person unable to fight off any kind of germs. It is believed to be caused by the absence of, or a lack of Adenosine Deaminase (ADA), as well as notable defects in T and B cell responses.

8)  Ectrodactyly
Also known as Lobster Claw Hand, Ectrodactyly is marked by one or more missing digits on either the foot or hand. Individuals with the condition usually have a cleft where their middle digits should be.

Ectrodactyly - Lobster Claw Hand or Foot
Ectrodactyly - Lobster Claw Hand or Foot
By Aurélie & Sylvain Mulard (Self-photographed), via Wikimedia Commons

People with the condition can suffer from hearing loss as well. Ectrodactly can be treated, to a certain extent, with corrective surgery.

7)  Alexander Disease
Alexander Disease is a very rare neurodegenerative condition which affects the central nervous system. The sufferer slowly loses control of his bodily and mental functions over time. Alexander Disease is caused by a mutation in the 17q21 chromosome and is an autosomal dominant disorder, meaning that people who have it have a 50% chance of passing it on the next generation.

Neuropathology of Alexander Disease
Neuropathology of Alexander Disease
By Marvin 101 (Own work), via Wikimedia Commons

The disease, which can be detected through an MRI, is exhibited by such symptoms as megalocephaly, developmental delay and spasticity. To-date, prognoses for the disease look bleak and no cure has been found for the condition. People who suffer from the disorder generally don’t live more than ten years.

6)  Progeria
Progeria is a disorder that causes accelerated aging. Most of the children that suffer from Progeria die in their teens as the result of age-related conditions. Progeria causes such health issues as alopecia, bone abnormalities, and all the other diseases that are related to the aging process. Formally known as Hutchinson-Gilford Progeria Syndrome, deaths related to Progeria are often the result of a heart attack or stroke.

Physical Defects to the Left - Cell Nucleus Mutations to the Right
Physical Defects to the Left - Cell Nucleus Mutations to the Right

Progeria develops from a mutation in the LMNA gene. A very rare disorder, Progeria occurs once in every 8 million births. Unfortunately, there is no cure for this genetic abnormality.

5)  Color Blindness
Color Blindness is the inability to see colors. This condition is not exactly blindness and is simply a color vision deficiency. A person with color blindness then cannot see specific colors or cannot differentiate between a variety of hues. Color blindness occurs when the retinal cones in the eyes do not develop correctly.

Red-Green Colorblindness Test
Red-Green Colorblindness Test

The genetic disorder can also be acquired, or develop as the result of trauma or injury to the optical nerve. Men are frequently affected by the condition.

4)  Down Syndrome
Down syndrome, also known as Trisomy 21, is a disorder where a child possesses three sets of chromosome 21 instead of two. A very common genetic disorder, Down Syndrome often appears in the population as much as 1 in 691 times in some countries.

Young Girl With Down Syndrome
Young Girl With Down Syndrome

Problems associated with this disorder are delays in physical growth, learning problems and facial irregularities. The IQ of Down Syndrome children can vary to such an extent that some individuals can follow a regular school curriculum while others, as adults, are unable to live independent lives.

3)  Hemophilia
Hemophilia is a very common genetic disorder related to the blood. Sufferers can bleed to death if they sustain a minor injury as the blood is unable to clot. As a result, most people do not know they have the disorder until they become injured.

Czar Nicholas II Was Afflicted With Hemophilia
Czar Nicholas II Was Afflicted With Hemophilia

Hemophilia has been further classified into 2 parts - Hemophilia A and Hemophilia B with Type A being more common. Males are frequently affected by the disorder.

2)  Sickle Cell Anemia
Sickle Cell Anemia is another blood- related disorder. The condition is denoted by blood cells that are sickle in shape. The disorder is believed to be a hemoglobin mutation caused in response to malaria. In fact, research has shown that people with sickle cell anemia are less affected by disease.

Sickle Cell Anemia
Sickle Cell Anemia

The disorder, which is common among people, whose ancestors lived in tropical climates, suffer from a variety of health conditions, all which can be linked to improper blood flow.

1)  Autism
Autism is a neural condition where the information processing capability of the brain malfunctions. Nerve cells and synapses connect differently than what is considered normal, leading to a number of complications.

Autism - Look At The Way the Toys Are Arranged
Autism - Look At The Way the Toys Are Arranged
By Andwhatsnext at en.wikipedia, from Wikimedia Commons

The condition is defined by such symptoms as repetitive behavior, impaired social interaction and problems with verbal and non-verbal communication. The exact cause for the genetic condition is not yet known.

Final Thoughts
Every person is unique because of the set of genes he inherits from his parents. But, at the core level, we are basically the same. However, DNA disorders and chromosome irregularities still leave us pondering about how to deal with those anomalies.





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