A fold of loose skin on the back of an infant's neck can be a sign of one of several serious syndromes. Although these syndromes might seem to be alarming, your child should still be able to enjoy a happy, industrious life as long as any associated problems are carefully monitored.
Some people have genetic disorders that interfere with the way their bodies convert food into energy. Pyruvate dehydrogenase phosphatase deficiency is a genetic defect that can make it hard for you to keep your cells energized,...
It occurs when chemicals called porphyrins accumulate in the body. There is no cure for porphyria, which is caused by a genetic mutation. A 2011 article published in "The Mercury" reports that less than 200,000 people in the U
True tumoral calcinosis is a genetic disorder that causes crystalline deposits of calcium and phosphorus near joints. Your body reabsorbs excess phosphorus instead of excreting it and then uses this excess to form the abnormal ...
A delicate balance exists between digestion of proteins and removal of urea from the body. Protein energizes the body at the price of toxic waste build-up. This waste must be removed for optimum health. The liver and kidneys pl...
Thanatophoric dysplasia, also referred to as thanatophoric dwarfism, is a form of skeletal dysplasia characterized by abnormal skeletal growth and development which occurs in approximately 1 in 20,000 to 50,000 births, accordin...
Joseph Woo of Hong Kong states in Obstetric Ultrasound. Male and females fetuses have identical genitalia until the male sex organs differentiate under the influence of testosterone. Genital defects arise either from abnormal h...
Some genetic diseases, especially sickle cell anemia, occur at a higher frequency in African Americans when compared to other populations. Genetic testing for these disorders is available so that couples can receive testing bef...
Many skin conditions are genetic. Most of these conditions are inherited, though some do occur from a sporadic change in the DNA of a gene. These conditions cause a variety of symptoms such as very dry, tight skin; blistering...
A surprising fact about genetics is that there are many syndromes that are termed "genetic," but have not been inherited from a parent. When DNA is passed from one generation to the next, it is copied. Generally, DNA is copied ...
Each chromosome contains thousands of genes, which control everything from your eye color to your immune responses. The Human Genome Project estimates there are 20,000 to 25,000 human genes. An inherited abnormality in just one...
The movements can be pendulum-like or jerky in fashion and can happen simultaneously in both eyes or in just a single eye. There are many causes of nystagmus. Those that are caused by injury, disease, drugs or alcohol are both...
Genetic diseases are medical conditions that are the result of faulty or mutated genetic material. The diseases are impossible to cure at this time because the abnormal DNA is present in all of the cells in the body. Genetic di...
These genes are packaged into 23 pairs of chromosomes, numbered 1 through 22, with the 23rd pair being the sex chromosomes (X and Y). Each of the genes has a specific role in the body's function. Inherited or sporadic changes o...
Genetic diseases or disorders result from a mutation in the genes (DNA). Sometimes, one gene can be mutated or a group of genes become mutated. In fact, some genes are passed within families. These genetic alterations can signi...
An abnormal gene that is passed down through the family may have only minor consequences, or it may have a dramatic impact on one's quality of life. Abnormal genes result due to single-gene defects or chromosomal disorders, acc...
Mutations can occur in genes that influence the development of collagen, fibroblast growth factor receptors, lysosomal enzymes and other substances in the body. Some of these disorders occur sporadically as the result of a new ...
They determine your appearance, your personality and your health condition. Sometimes, environmental or hereditary factors can play a role in interfering with this individual blueprint and genetic diseases result. Noonan syndro...
Twenty percent of the Jewish population today is non- Ashkenazic, according to Bloch. Many Ashkenazik Jews carry lethal genetic diseases; Sephardic Jews also carry several genetic diseases, but many are common to the population...
There are several foot disorders that are believed to be influenced or created by a genetic predisposition. Genetic foot disorders include bunions, flatfoot and club foot. Most become increasingly cumbersome, or even painful, i...
Hamartoma syndrome is a category of genetic disorders that results from a genetic mutation of the PTEN gene. This condition, also referred to as a PTEN hamartoma tumor syndrome (PHTS), is a rare condition in which "hamartoma" d...
DNA testing "can provide information for diagnosing, treating and preventing illness," according to the Mayo Clinic. Screenings can help find genetic disorders before the symptoms of the disorder occur, in adults and fetuses. A...
Unlike many other genetic disorders, McCune-Albright syndrome isn't always apparent at birth. If, however, your child is in the approximately 50 percent of patients who present with cafe-au-lait spots (flat, brown birthmarks) ...
Klinefelter syndrome is a genetic disorder in which male babies are born with an extra X chromosome. There is no way to prevent the genetic abnormality from occurring, but awareness, early diagnosis and early treatment can help...
As is true with most genetic disorders, there is no way to prevent McCune-Albright syndrome. Most people's cells carry the same genetic information, no matter where in the body they are found. This means there is little, if an...
When the tumor is on the duodenum, the first part of the small intestine, it usually means that the person has von Recklinghausen's disease, also known as neurofibromatosis, a genetic disorder that affects the nervous system. A...
Genes seem to influence mental disorders in three major ways. First, they may contribute to the cause of disease's such as Alzheimer's, schizophrenia or autism. Second, they can be responsible for abnormalities that occur befo...