Dwarfism

Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will not offend them would be little people, LP, person with short stature, or dwarf. Even though dwarfs feel as if they do not have disabilities, the Americans with Disabilities Act (ADA) will protect the rights of dwarfs. (who discovered it? March

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

The provider is correct that short stature is not necessary for the diagnosis of growth hormone deficiency if the member is short for expected height; however, this member’s height has never clearly been outside the expected range for family. It also can be argued that delay in growth velocity can be masked by the pubertal growth spurt. However, review of the growth charts provided by the member’s primary care physician and endocrinologist does not clearly demonstrate abnormal growth velocity. While he did have one point that dipped down to the 10th percentile, overall his points are between the 10th and 25th percentiles and generally follow the same curve, indicating that one point is likely aberrant or perhaps consistent with normal prepubertal slowing in growth. After puberty started, the member grew at the upper end of the normal range, which is generally not seen in growth hormone

beginning with growth failure during the first year of life. Progeria is a rare condition but has come into

A three year-old boy was born with facial deformities as the result of a prenatal complication. He was born with a hole in his face, which was where his nose was supposed to be. He was also born without an upper jaw and eyes. The little boy, whose name is Yahya, was shielded from other people by his parents.

Congenital abnormalities occur during a fetus’s development before birth. In the United States, about three to four percent of babies are born with some sort of congenital abnormality. Spina bifida is the most common congenital abnormality, occurring in about one in every one thousand births. Spina bifida happens when the spinal bones do not close properly during formation. Spina bifida can be seen in a newborn by a small sac located on the spine. Surgery must be done within the first few days of the infant’s life in order to remove the sac. The sac contains spinal fluid and damaged nerves, but little can be done to repair the damaged nerves.

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

It has been found that the symptoms of Achondroplasia contain the most commonly seen ones for people with dwarfism. Such as, a short stature, legs, and arms, limited movements in the area of the elbows, an abnormal head size which contains a significant forehead and a compressed nose bridge, an estimated height of 4 feet, short fingers with a detachment in between the middle and ring finger, a projecting jaw, crowded teeth, and a development of bowed legs. Health experts also uncovered the symptoms of less common types, such as diastrophic dysplasia and spondyloepiphyseal dysplasias. Diastrophic dysplasia may include symptoms such as deformation in hands and feet and restricted movements. On the other hand, Spondyloepiphyseal dysplasias can

short stature with disproportionally short arms and legs, and short fingers. Other symptoms is a

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

Achondroplasia is a disease that is dwarfism which is a change in growth of long bones, in resulting very short limbs. Sometimes a face that is small in relation to a normal face sized to skull (hereditary condition). An adult height is four feet ten inches or less. It’s a genetic or medical condition. The major disorders in this disease is during early fetal development, much of your skeleton is made up of cartilage doesn’t convert to bone. Caused by mutations in the gene, FGFR3. This gene instructs your body to make protein necessary for the bone growth. It interferes with the normal skeleton development. The symptoms of this disorder is when at birth/child: short legs and arms, an underdeveloped area of the face between the forehead and upper jaw, short fingers, ring and middle finger point away from each other, and a disproportionately large head compared to the body. The symptoms for health: decrease muscle tone which can cause delays in walking and other motor skills, apnea which involves brief periods of slowed breathing or breathing that stops, hydrocephalus or water on the brain, spinal stenosis which is a narrowing of the spinal canal that can compress the spinal cord. Last but not least but the children/adults symptoms: have difficulty bending their elbows, be obese, experience recurrent ear infections because of narrow passages in the ears, developed an abnormal curvature of the spine called kyphosis or lordosis, and develop new

Achondroplasia can be known as dwarfism which is a genetic disease which shows of a disorder in height and bone growth . Achondroplasia is a genetic disease is a cause of Dwarfism. It occurs as a mutation is 80% of cases. It may be inherited autosomal dominant. People with Achondroplasia have a short stature. Identified by an adult 4”10 or under. Achondroplasia can be announced in an ultrasound before your born there is a DNA test.

Achondroplasia is the most common diagnosis and most frequent form of those who are considered to be dwarfs (“Learning About”, 2016). When one thinks of dwarfism, they think of a short stature with short arms, legs, and a large head. It occurs in one in every 15,000 to one in 40,000 live births (“Learning About”, 2016). According to BBC News (2005), researchers found that the earliest biological evidence of dwarfs dates back to a Predynastic Period called the "Badarian Period" (4500 BC) in addition to several skeletons from the Old Kingdom (2700 - 2190 BC). There has been evidence of dwarfism in ancient Egyptian times. Dwarfs were held in high regard in ancient Egypt even having two dwarf gods that they worshiped named Ptah and Bes

Achondroplasia is a genetic disorder that results in a form of dwarfism. Individuals who developed this disorder are characterized by a usually normal torso and shortened limbs. Furthermore, achondroplasia is ordinarily inherited as an autosomal dominant trait, which means that only one parent passes on a copy of the defective gene on a chromosome other than a sex chromosome. However, the majority of cases of achondroplasia are due to a new spontaneous gene mutation.

Evidence: According to Mayo Clinic, about 80% of people born with Achondroplasia have normal heighted parents.