Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a

Here are some interesting facts on Achondroplasia. Achondroplasia is a small limbed dwarfism. A disorder of bone growth which stops the changing of cartilage to bone. Here are some major causes of mutations in the FGFR3 gene. The symptoms of Achondroplasia are health problems such as breathing stops or slows sown at small amounts of time, obesity, ear infections, in childhood individuals get a permanent sway of lower back, and pain and weakness in legs. Those are some interesting facts on Achondroplasia.

ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities are: Microcephaly with secondary premature synostosis. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Receding forehead. Prominent nose, micrognathia, low- set malformed

Two forms of Citrullinemia have been described including: Type I Citrullinemia and Type II Citrullinemia. They have different signs and symptoms and are caused by mutations in different genes.

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

Normal genes are dominant over those that are abnormal for most of the time- but sometimes the trait is dominant, when one parent carries one dominant abnormal gene and one recessive gene and the other parent carries two recessive normal gene’s each child has a 50/50 chance of inheriting the abnormal gene. Out of 1800 disorders that are generally recognized to be transmitted by dominant or achondroplasia (a type of dwarfism) and Huntington’s disease. While these defects can be serious defects that transmitted by dominant inheritance the reason for this is a dominant gene is likely at an early age the children who are affected are apt to die before reproducing, as a consequence the next generation will be the recipient of this defect and it

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

Achondroplasia is one type of short-limbed dwarfism where arms and legs are smaller in length but the head and torso look as if there is no deficiency. The word achondroplasia is derived from the phase "lacking cartilage development." Cartilage is hard and durable but is also a flexible tissue that makes up most of the bone structure during the early stages of development. Nonetheless, in achondroplasia there is no problem with developing cartilage, but instead the problem comes in converting it to bone, a development known as ossification, predominantly in the longer bones of the arms, such as the humerus, ulna and radius, and legs, which include the femur, tibia and fibula. Achondroplasia is comparable to additional skeletal syndromes known as hypochondroplasia, but the structures of achondroplasia have a tendency to be more intense. All people suffering with the genetic disorder achondroplasia are very short in physique. The typical height of a mature male with achondroplasia is 131 centimeters, or 4 feet 4 inches, and the typical height for mature females is 124 centimeters, or 4 feet 1 inch. It occurs in every 1 in 40,000 newborns making it the most known category of short limbed dwarfism.

with Cornelia de Lange syndrome tend to be short in stature, with height and weight falling

“Achromatopsia affects roughly 1 in 33,000 Americans.” (2) Achromatopsia is a condition in which a person loses partial or all of their ability to see color and can also be referred to as achromatism, rod monochromatism, or total color blindness. It is the result of a change in one of the following genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. Achromatopsia is a disorder that affects the retina, which is the part of the eye that is sensitive to light and forms visual images. Inside the retina is two different types of light receptor cells, called rods and cones. These cells use a process called phototransduction to send visual signals from the eye to the brain. Mutations in any of the genes above disrupt the phototransduction process, affecting

The cause of facioscapulohumeral are genetic. It shows up in both genders and it will show up in a child if any of the child’s parents carry any genes of this disorder. The causes of distal are genetic defects and defects of the same sex(gene).The causes of oculopharyngeal are gent=etic leading to unnecessary chemical material that forms clumps in the blood cells or can be passed down by either parents. The cause of emery-dreifuss are genetic. They also can be passed down.

We can see by the pedigree that this could be an autosomal dominant disorder in that any persons who have inherited this disorder have done so, vertically, from an affected

According to GHR.gov, Achondroplasia is a very rare type of dwarfism; it affects one in about 15,000 to 40,000 newborns.

After trying for many years, a woman was successful in becoming pregnant. As a component of one of her routine pre-natal appointments, she was tested for fetal abnormalities. A blood test confirmed that her baby has Down syndrome and her physician recommended aborting the fetus. Down syndrome is a chromosomal abnormality that leads to intellectual disability, weak muscle tone and a unique facial characteristic. Down syndrome children often have increased risks for heart defects and other medical conditions such as gastric reflux. Taking care of a child with Down syndrome can be both mentally and physically exhausting. Taking care of a child with Down syndrome can be equally rewarding.

The most common physical characteristic noticed about these individuals after birth is short stature. If it is not found at birth, a child will stick out around 5 years of age due to not growing as fast as their peers and become diagnosed with this condition. Other typical physical characteristics include swelling of hands and feet, delay in puberty and pterygium coli (skin folds along sides of the neck) (Doswell, Visootsak, Brady, & Graham, 2006). The hairline in the back of the head will be substantially lower. Also, the eyes will appear to be slanted downward and the ears rotated farther towards the back of the head. The lack of estrogen from the missing X can cause an array of skeletal deformities.

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder most commonly found amongst the Caucasian population. In the United States, the reported prevalence of CF for the Caucasian population is 1:3200, for African American is 1:15000 and for Asian American is 1:310001.